Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
TNN	63923	broad.mit.edu	37	1	175046756	175046756	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr1:175046756G>A	ENST00000239462.4	+	2	315	c.202G>A	c.(202-204)Gat>Aat	p.D68N		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	68					cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CCTCAGTGACGATGGGGCTTC	0.577000													19	46					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179616450	179616450	+	Silent	SNP	G	G	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr2:179616450G>A	ENST00000360870.5	-	46	10899	c.10677C>T	c.(10675-10677)caC>caT	p.H3559H	TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	3558	Ig-like 21.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAGAGTGATGGTGTAAATCAC	0.413000													4	20					0	0	1	0	0
FCGR3A	2214	broad.mit.edu	37	1	161514743	161514743	+	Silent	SNP	G	G	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr1:161514743G>A	ENST00000367969.3	-	4	616	c.433C>T	c.(433-435)Ctg>Ttg	p.L145L	FCGR3A_ENST00000443193.1_Silent_p.L144L|FCGR3A_ENST00000436743.1_Silent_p.L109L|FCGR3A_ENST00000540048.1_Silent_p.L109L	NM_000569.6	NP_000560.5	P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	109	Ig-like C2-type 2.				immune response|regulation of immune response	extracellular region|integral to membrane|plasma membrane	IgG binding|receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TGGAGCAACAGCCAGCCTGAA	0.562000													7	17					0	0	1	0	0
TUBB8	347688	broad.mit.edu	37	10	93691	93691	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr10:93691G>A	ENST00000447903.2	-	4	740	c.425C>T	c.(424-426)aCc>aTc	p.T142I	TUBB8_ENST00000413237.3_5'UTR|TUBB8_ENST00000332708.5_3'UTR|TUBB8_ENST00000309812.4_Missense_Mutation_p.T214I			Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	214					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		CAGTTTTAGGGTCTTGGAACA	0.537000													17	65					0	0	1	0	0
SGK1	6446	broad.mit.edu	37	6	134492024	134492024	+	Silent	SNP	G	G	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr6:134492024G>A	ENST00000367858.5	-	13	1950	c.1353C>T	c.(1351-1353)tcC>tcT	p.S451S	SGK1_ENST00000367857.5_Silent_p.S346S|SGK1_ENST00000475719.2_Silent_p.S312S|SGK1_ENST00000413996.3_Silent_p.S370S|SGK1_ENST00000237305.7_Silent_p.S356S|SGK1_ENST00000528577.1_Silent_p.S384S	NM_001143676.1	NP_001137148.1	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1	356					apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		AGTTAATTAAGGAGAAGAAGA	0.393000													5	58					0	0	1	0	0
TCTE1	202500	broad.mit.edu	37	6	44253763	44253763	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr6:44253763G>A	ENST00000371505.4	-	3	906	c.784C>T	c.(784-786)Ctc>Ttc	p.L262F	TMEM151B_ENST00000438774.2_Intron|TCTE1_ENST00000371504.1_Missense_Mutation_p.L109F|TCTE1_ENST00000371503.3_Missense_Mutation_p.L109F	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	262										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TAGGTGAAGAGGAAGAGATTC	0.592000													11	126					0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31588407	31588407	+	Silent	SNP	G	G	T	rs143539472	byFrequency	TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr2:31588407G>T	ENST00000379416.3	-	23	2508	c.2460C>A	c.(2458-2460)acC>acA	p.T820T		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	820					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	p.T820T(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	CAGGGCGGCCGGTCCTGGGGG	0.552000													28	158					7.63091e-17	7.80369e-17	1	1	0
EIF2D	1939	broad.mit.edu	37	1	206772928	206772928	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr1:206772928G>A	ENST00000271764.2	-	10	1299	c.1091C>T	c.(1090-1092)tCc>tTc	p.S364F	EIF2D_ENST00000367114.3_Missense_Mutation_p.S240F	NM_006893.2	NP_008824.2	P41214	EIF2D_HUMAN	eukaryotic translation initiation factor 2D	364					intracellular protein transport	cytoplasm	protein binding|receptor activity|translation initiation factor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						GATAGTCTGGGAGGTCGGGGA	0.507000													16	88					0	0	1	0	0
EDAR	10913	broad.mit.edu	37	2	109539872	109539872	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr2:109539872C>T	ENST00000409271.1	-	6	837	c.394G>A	c.(394-396)Ggc>Agc	p.G132S	EDAR_ENST00000376651.1_Missense_Mutation_p.G132S|EDAR_ENST00000258443.2_Missense_Mutation_p.G132S			Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	132					apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						CAGACCATGCCATAGATGTTC	0.547000													18	205					0	0	1	0	0
PLA2G5	5322	broad.mit.edu	37	1	20412721	20412721	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr1:20412721G>A	ENST00000375108.3	+	3	453		c.e3+1		PLA2G5_ENST00000486277.1_Splice_Site	NM_000929.2	NP_000920.1	P39877	PA2G5_HUMAN	phospholipase A2, group V						lipid catabolic process	extracellular region	calcium ion binding|calcium-dependent phospholipase A2 activity			NS(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000249)|Lung NSC(340;0.000287)|Breast(348;0.000812)|Ovarian(437;0.00328)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;8.15e-05)|Kidney(64;0.000184)|GBM - Glioblastoma multiforme(114;0.00089)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0652)		GCACCGATTGGTGAGCTGATC	0.517000													11	82					0	0	1	0	0
PCDHA3	56145	broad.mit.edu	37	5	140181765	140181765	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr5:140181765C>T	ENST00000522353.2	+	1	983	c.983C>T	c.(982-984)cCc>cTc	p.P328L	PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.P328L|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAAGGAAATCCCCCAATGTCA	0.373000													4	88					0	0	1	0	0
ACER2	340485	broad.mit.edu	37	9	19450565	19450565	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr9:19450565G>A	ENST00000340967.2	+	6	785	c.759G>A	c.(757-759)tgG>tgA	p.W253*		NM_001010887.2	NP_001010887.2	Q5QJU3	ACER2_HUMAN	alkaline ceramidase 2	253					ceramide metabolic process|negative regulation of cell adhesion mediated by integrin|negative regulation of cell-matrix adhesion|negative regulation of protein glycosylation in Golgi|positive regulation of cell proliferation|response to retinoic acid|sphingosine biosynthetic process	integral to Golgi membrane	ceramidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	13						ATGAGAAATGGGCCTTCATTG	0.507000													11	74					0	0	1	0	0
PCK1	5105	broad.mit.edu	37	20	56137870	56137870	+	Silent	SNP	G	G	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr20:56137870G>A	ENST00000319441.4	+	4	689	c.525G>A	c.(523-525)cgG>cgA	p.R175R	PCK1_ENST00000543666.1_Intron|PCK1_ENST00000535860.1_Silent_p.R43R	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	175					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			TCATGACGCGGATGGGCACGC	0.572000													15	111					0	0	1	0	0
EXTL3	2137	broad.mit.edu	37	8	28574447	28574447	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr8:28574447G>A	ENST00000220562.4	+	3	1773	c.871G>A	c.(871-873)Gtc>Atc	p.V291I	EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Intron	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	291						integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		TCTCTATAACGTCAGTACTGG	0.522000													4	50					0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113163201	113163201	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr9:113163201A>C	ENST00000401783.2	-	40	10091	c.9755T>G	c.(9754-9756)gTg>gGg	p.V3252G	SVEP1_ENST00000297826.5_Missense_Mutation_p.V1178G|SVEP1_ENST00000374469.1_Missense_Mutation_p.V3229G	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	3252	Sushi 31.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						ACTGCCAACCACAAATCCATG	0.403000													3	24					0	0	1	0	0
KCNC1	3746	broad.mit.edu	37	11	17793307	17793307	+	Silent	SNP	G	G	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr11:17793307G>A	ENST00000379472.3	+	2	696	c.666G>A	c.(664-666)acG>acA	p.T222T	KCNC1_ENST00000265969.6_Silent_p.T222T	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	222						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						TGAACAAGACGGAGATCGAGA	0.582000													6	67					0	0	1	0	0
TMEM63A	9725	broad.mit.edu	37	1	226050548	226050548	+	Translation_Start_Site	SNP	G	G	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr1:226050548G>A	ENST00000537914.1	-	0	408				TMEM63A_ENST00000366835.3_Silent_p.D250D|TMEM63A_ENST00000474478.1_5'UTR			O94886	TM63A_HUMAN	transmembrane protein 63A							integral to membrane|lysosomal membrane	nucleotide binding			breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					TGGGATACGCGTCCCTGTGGC	0.567000													8	68					0	0	1	0	0
AK7	122481	broad.mit.edu	37	14	96922768	96922768	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr14:96922768C>T	ENST00000267584.4	+	11	1227	c.1183C>T	c.(1183-1185)Cac>Tac	p.H395Y		NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	395	Adenylate kinase.				cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		CAAACTGCATCACATCCAACT	0.393000													9	74					0	0	1	0	0
CUX1	1523	broad.mit.edu	37	7	101845351	101845351	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr7:101845351C>T	ENST00000360264.3	+	18	2827	c.2807C>T	c.(2806-2808)cCc>cTc	p.P936L	CUX1_ENST00000560541.1_Intron|CUX1_ENST00000549414.2_Missense_Mutation_p.P903L|CUX1_ENST00000556210.1_Missense_Mutation_p.P767L|CUX1_ENST00000550008.2_Missense_Mutation_p.P869L|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000292535.7_Missense_Mutation_p.P925L|CUX1_ENST00000546411.2_Missense_Mutation_p.P823L|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000292538.4_Intron	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	925					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						CCCACCAAGCCCTCGGTCCCC	0.642000													33	195					0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54735191	54735191	+	Silent	SNP	G	G	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr6:54735191G>A	ENST00000306858.7	+	2	263	c.147G>A	c.(145-147)caG>caA	p.Q49Q		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	49										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TTCTTGTCCAGGAACGAGTTT	0.388000													4	43					0	0	1	0	0
IGHV3OR16-9	28307	broad.mit.edu	37	16	33647359	33647359	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr16:33647359C>T	ENST00000558425.1	-	2	240	c.241G>A	c.(241-243)Gac>Aac	p.D81N																								TTCACAGAGTCTGCGTAGTTT	0.502000													26	303					0	0	1	0	0
CELF5	60680	broad.mit.edu	37	19	3282252	3282252	+	Silent	SNP	C	C	T	rs144542912		TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr19:3282252C>T	ENST00000541430.2	+	7	915	c.879C>T	c.(877-879)atC>atT	p.I293I	CELF5_ENST00000292672.2_Silent_p.I293I	NM_001172673.1	NP_001166144.1	Q8N6W0	CELF5_HUMAN	CUGBP, Elav-like family member 5	293				I -> V (in Ref. 5; AAK07476).	mRNA processing	cytoplasm|nucleus	nucleotide binding|RNA binding			kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	13						CCACACCCATCGCTCCTGCCT	0.672000													5	17					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195515025	195515025	+	Silent	SNP	A	A	G			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr3:195515025A>G	ENST00000463781.3	-	2	3885	c.3426T>C	c.(3424-3426)acT>acC	p.T1142T	MUC4_ENST00000475231.1_Silent_p.T1142T|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1019					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.T1142T(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		ATACTGAGGAAGTGTCGGTGA	0.562000													3	5					0	0	1	0	0
OAS2	4939	broad.mit.edu	37	12	113446901	113446901	+	Silent	SNP	C	C	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr12:113446901C>T	ENST00000392583.2	+	10	2112	c.1905C>T	c.(1903-1905)atC>atT	p.I635I	OAS2_ENST00000342315.4_Silent_p.I635I|RP1-71H24.1_ENST00000552784.1_RNA	NM_002535.2	NP_002526.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	635	OAS domain 2.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						GGCCTGTGATCTTGGACCCAG	0.493000													27	158					0	0	1	0	0
TNS3	64759	broad.mit.edu	37	7	47343143	47343143	+	Silent	SNP	G	G	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr7:47343143G>A	ENST00000398879.1	-	22	3228	c.2862C>T	c.(2860-2862)ccC>ccT	p.P954P	TNS3_ENST00000355730.3_Silent_p.P714P|TNS3_ENST00000311160.9_Silent_p.P954P			Q68CZ2	TENS3_HUMAN	tensin 3	954						focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						CCATGGGCTTGGGGCTGCTCT	0.597000													5	7					0	0	1	0	0
PCDHB16	57717	broad.mit.edu	37	5	140563208	140563208	+	Silent	SNP	G	G	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr5:140563208G>A	ENST00000361016.2	+	1	2229	c.1074G>A	c.(1072-1074)gaG>gaA	p.E358E		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		358	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCATCCCAGAGAACTCGCCTG	0.522000													8	91					0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	165953813	165953813	+	Silent	SNP	C	C	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr2:165953813C>T	ENST00000360093.3	-	23	4679	c.4188G>A	c.(4186-4188)gtG>gtA	p.V1396V	SCN3A_ENST00000409101.3_Silent_p.V1347V|SCN3A_ENST00000283254.7_Silent_p.V1396V	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1396						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	AGTTTACTTTCACGTTTTTCC	0.403000													10	27					0	0	1	0	0
TCL1A	8115	broad.mit.edu	37	14	96178665	96178665	+	Silent	SNP	G	G	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr14:96178665G>A	ENST00000402399.1	-	2	318	c.189C>T	c.(187-189)acC>acT	p.T63T	TCL1A_ENST00000555202.1_Silent_p.T63T|RP11-164H13.1_ENST00000547644.2_RNA|TCL1A_ENST00000554012.1_Silent_p.T63T|TCL1A_ENST00000556450.1_Silent_p.T63T|RP11-164H13.1_ENST00000553445.1_RNA	NM_021966.2	NP_068801.1	P56279	TCL1A_HUMAN	T-cell leukemia/lymphoma 1A	63					multicellular organismal development	endoplasmic reticulum|microsome				haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	12		all_cancers(154;0.103)		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)		TCTGGGTGGGGGTCATAGGCC	0.547000			T	TRA@	T-CLL								18	102					0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	132193153	132193153	+	Silent	SNP	G	G	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr7:132193153G>A	ENST00000359827.3	-	2	1262	c.300C>T	c.(298-300)atC>atT	p.I100I	PLXNA4_ENST00000423507.2_Silent_p.I100I|PLXNA4_ENST00000378539.5_Silent_p.I100I|PLXNA4_ENST00000321063.4_Silent_p.I100I			Q9HCM2	PLXA4_HUMAN	plexin A4	100	Sema.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						AGGTCTGGACGATGCGGGGTG	0.557000													17	73					0	0	1	0	0
MKL1	57591	broad.mit.edu	37	22	40816901	40816901	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr22:40816901C>G	ENST00000396617.3	-	10	1421	c.831G>C	c.(829-831)caG>caC	p.Q277H	MKL1_ENST00000407029.1_Missense_Mutation_p.Q277H|MKL1_ENST00000355630.3_Missense_Mutation_p.Q277H|MKL1_ENST00000402042.1_Missense_Mutation_p.Q227H			Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	277	Gln-rich.				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						GCTGCTGCTGCTGGTTGAGGA	0.657000			T	RBM15	acute megakaryocytic leukemia								4	94					0	0	1	0	0
EHMT2	10919	broad.mit.edu	37	6	31855918	31855918	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr6:31855918G>A	ENST00000395728.3	-	12	1815	c.1816C>T	c.(1816-1818)Ccc>Tcc	p.P606S	EHMT2_ENST00000375528.4_Missense_Mutation_p.P572S|EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375530.4_Missense_Mutation_p.P515S|EHMT2_ENST00000375537.4_Missense_Mutation_p.P549S			Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	549					DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						TCACCCCGGGGGATGGTCACC	0.652000													6	48					0	0	1	0	0
CHAMP1	283489	broad.mit.edu	37	13	115090384	115090384	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr13:115090384C>T	ENST00000361283.1	+	3	1376	c.1067C>T	c.(1066-1068)cCt>cTt	p.P356L		NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	ZN828_HUMAN	chromosome alignment maintaining phosphoprotein 1	356	Mediates interaction with MAD2L2.|Pro-rich.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding										TCTGTATCTCCTGGACCTTGG	0.502000													8	107					0	0	1	0	0
CNBD1	168975	broad.mit.edu	37	8	88365890	88365890	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr8:88365890G>A	ENST00000518476.1	+	10	1230	c.1179G>A	c.(1177-1179)atG>atA	p.M393I		NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	393										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						TTGTTTATATGGGGAAACTTA	0.323000													3	11					0	0	1	0	0
SERPINA3	12	broad.mit.edu	37	14	95081330	95081330	+	Silent	SNP	G	G	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr14:95081330G>A	ENST00000553947.1	+	5	1515	c.627G>A	c.(625-627)gtG>gtA	p.V209V	SERPINA3_ENST00000393078.3_Silent_p.V184V|SERPINA3_ENST00000556388.1_Intron|SERPINA3_ENST00000467132.1_Silent_p.V184V|SERPINA3_ENST00000393080.4_Silent_p.V184V			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	184					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		ACGACTACGTGAAGAATGGAA	0.488000													12	94					0	0	1	0	0
TMPRSS9	360200	broad.mit.edu	37	19	2408369	2408369	+	Silent	SNP	G	G	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr19:2408369G>A	ENST00000332578.3	+	7	756	c.756G>A	c.(754-756)acG>acA	p.T252T		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	252	Peptidase S1 1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGACCCGACGAAGTGGGTGG	0.657000													16	53					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114203843	114203843	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr4:114203843C>T	ENST00000357077.4	+	18	1947	c.1894C>T	c.(1894-1896)Ccg>Tcg	p.P632S	ANK2_ENST00000264366.6_Missense_Mutation_p.P632S|ANK2_ENST00000394537.3_Missense_Mutation_p.P632S|ANK2_ENST00000506722.1_Missense_Mutation_p.P611S	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	632					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TGGCTATACTCCGTTACATAT	0.348000													5	13					0	0	1	0	0
CLTCL1	8218	broad.mit.edu	37	22	19211483	19211483	+	Silent	SNP	G	G	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr22:19211483G>A	ENST00000263200.10	-	14	2295	c.2223C>T	c.(2221-2223)atC>atT	p.I741I	CLTCL1_ENST00000353891.5_Silent_p.I741I|CLTCL1_ENST00000427926.1_Silent_p.I741I	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	741	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					CCACCTCCTTGATCTGCCCTG	0.522000			T	?	ALCL								11	54					0	0	1	0	0
TRBV6-5	28602	broad.mit.edu	37	7	142180558	142180558	+	RNA	SNP	C	C	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr7:142180558C>A	ENST00000390368.2	-	0	366																											TGGGAGGGAGCAGCCGACAGC	0.557000													65	366					6.01781e-45	6.17737e-45	1	1	0
TTN	7273	broad.mit.edu	37	2	179612246	179612246	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr2:179612246G>A	ENST00000360870.5	-	46	15103	c.14881C>T	c.(14881-14883)Cgt>Tgt	p.R4961C	TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	1078	Ig-like 30.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAAAGTGGACGACCTAGTGAT	0.408000													4	20					0	0	1	0	0
IGHG1	3500	broad.mit.edu	37	14	106208028	106208028	+	RNA	SNP	C	C	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr14:106208028C>T	ENST00000390548.2	-	0	774																											ACGGCGATGTCGCTGGGATAG	0.612000													66	183					0	0	1	0	0
CHST1	8534	broad.mit.edu	37	11	45672385	45672385	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr11:45672385G>A	ENST00000308064.2	-	4	759	c.89C>T	c.(88-90)tCc>tTc	p.S30F		NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	30					galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		GGTGTGAAAGGACTTGGCGGT	0.652000													13	132					0	0	1	0	0
SEC24C	9632	broad.mit.edu	37	10	75530502	75530502	+	Silent	SNP	G	G	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr10:75530502G>A	ENST00000339365.2	+	23	3252	c.3090G>A	c.(3088-3090)aaG>aaA	p.K1030K	SEC24C_ENST00000535742.1_Silent_p.K278K|SEC24C_ENST00000345254.4_Silent_p.K1030K|SEC24C_ENST00000540668.1_Silent_p.K278K|SEC24C_ENST00000411652.2_Silent_p.K911K	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	1030					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					CACTGTCCAAGAAGGTTCGAG	0.463000													14	80					0	0	1	0	0
SIN3A	25942	broad.mit.edu	37	15	75693210	75693210	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr15:75693210T>A	ENST00000394947.3	-	11	1912	c.1598A>T	c.(1597-1599)tAt>tTt	p.Y533F	SIN3A_ENST00000394949.4_Missense_Mutation_p.Y533F|SIN3A_ENST00000360439.4_Missense_Mutation_p.Y533F	NM_001145358.1	NP_001138830.1	Q96ST3	SIN3A_HUMAN	SIN3 transcription regulator family member A	533	Interaction with NCOR1 (By similarity).|Interactions with SUDS3 and SAP130.				blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						CTCCTTTGGATAAGTTTCCAG	0.418000													3	31					0	0	1	0	0
GPR176	11245	broad.mit.edu	37	15	40093419	40093419	+	Nonsense_Mutation	SNP	G	G	A	rs147730816		TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr15:40093419G>A	ENST00000299092.3	-	4	1657	c.1459C>T	c.(1459-1461)Cag>Tag	p.Q487*	GPR176_ENST00000561100.1_Nonsense_Mutation_p.Q488*|GPR176_ENST00000543580.1_Nonsense_Mutation_p.Q443*|RP11-37C7.1_ENST00000558616.1_RNA	NM_001271854.1|NM_001271855.1	NP_001258783.1|NP_001258784.1	Q14439	GP176_HUMAN	G protein-coupled receptor 176	488					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity	p.Q488*(1)		central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)	23		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)		ACCTTTGTCTGGATCAGCTCT	0.517000													25	102					0	0	1	0	0
USP6	9098	broad.mit.edu	37	17	5048751	5048751	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr17:5048751C>T	ENST00000574788.1	+	27	4274	c.2044C>T	c.(2044-2046)Cat>Tat	p.H682Y	USP6_ENST00000304328.5_Missense_Mutation_p.H365Y|USP6_ENST00000250066.6_Missense_Mutation_p.H682Y|USP6_ENST00000332776.4_Missense_Mutation_p.H682Y			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	682					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						GGATTTGTTCCATGGGCAGCT	0.388000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts								9	49					0	0	1	0	0
CLCA1	1179	broad.mit.edu	37	1	86964337	86964337	+	Silent	SNP	C	C	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr1:86964337C>T	ENST00000234701.3	+	14	2547	c.2196C>T	c.(2194-2196)tcC>tcT	p.S732S	CLCA1_ENST00000394711.1_Silent_p.S732S			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	732					calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		GCAGAACATCCTCGGGAGGCT	0.448000													9	113					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34064264	34064264	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr15:34064264C>T	ENST00000389232.4	+	63	9030	c.8960C>T	c.(8959-8961)tCt>tTt	p.S2987F	RYR3_ENST00000415757.3_Missense_Mutation_p.S2987F	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2987					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AAAGGCGTTTCTCAGAATATT	0.453000													6	33					0	0	1	0	0
ASMTL	8623	broad.mit.edu	37	X	1522331	1522331	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chrX:1522331G>A	ENST00000534940.1	-	13	1748	c.1523C>T	c.(1522-1524)gCg>gTg	p.A508V	ASMTL_ENST00000381317.3_Missense_Mutation_p.A566V|ASMTL-AS1_ENST00000443929.1_RNA|ASMTL-AS1_ENST00000425740.2_RNA|ASMTL_ENST00000381333.4_Missense_Mutation_p.A550V|ASMTL_ENST00000416733.2_Missense_Mutation_p.A490V|ASMTL-AS1_ENST00000420411.2_RNA	NM_001173473.1	NP_001166944.1	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	566	ASMT-like.				melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGCGCGCTGCGCCACCCTCTT	0.652000													16	117					0	0	1	0	0
KCNB1	3745	broad.mit.edu	37	20	47989612	47989612	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr20:47989612C>T	ENST00000371741.4	-	2	2651	c.2485G>A	c.(2485-2487)Gaa>Aaa	p.E829K		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	829					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	p.E829K(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TTGCACTTTTCCTGACCACTG	0.522000													6	50					0	0	1	0	0
ADAL	161823	broad.mit.edu	37	15	43641177	43641177	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr15:43641177C>T	ENST00000422466.2	+	11	1280	c.706C>T	c.(706-708)Ctc>Ttc	p.L236F	ADAL_ENST00000562188.1_Missense_Mutation_p.L236F|ADAL_ENST00000389651.4_Missense_Mutation_p.L236F|ADAL_ENST00000428046.3_Missense_Mutation_p.L209F			Q6DHV7	ADAL_HUMAN	adenosine deaminase-like	236					adenosine catabolic process|inosine biosynthetic process|purine ribonucleoside monophosphate biosynthetic process		adenosine deaminase activity|metal ion binding			endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)	7		all_cancers(109;7.96e-11)|all_epithelial(112;2.96e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;9.31e-07)		TGGAACATTTCTCAACTCCGG	0.473000													9	66					0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133539985	133539985	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr2:133539985G>A	ENST00000409261.1	-	14	4772	c.4399C>T	c.(4399-4401)Ccc>Tcc	p.P1467S	NCKAP5_ENST00000317721.6_Missense_Mutation_p.P1467S|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1467							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GGTGAGAGGGGGGCTTCTGAA	0.488000													7	15					0	0	1	0	0
MUC21	394263	broad.mit.edu	37	6	30954947	30954947	+	Missense_Mutation	SNP	A	A	C	rs144550410		TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr6:30954947A>C	ENST00000376296.3	+	2	1236	c.995A>C	c.(994-996)aAc>aCc	p.N332T	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	332	28 X 15 AA approximate tandem repeats.|Ser-rich.					integral to membrane|plasma membrane				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						ACAGCCACCAACTCTGAGTCC	0.622000													8	485					0	0	1	0	0
ASIC2	40	broad.mit.edu	37	17	32483090	32483090	+	Silent	SNP	C	C	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr17:32483090C>T	ENST00000359872.6	-	1	1223	c.462G>A	c.(460-462)ctG>ctA	p.L154L		NM_001094.4	NP_001085.2	Q16515	ACCN1_HUMAN	acid-sensing (proton-gated) ion channel 2	154					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	GCAGGAACTCCAGCATGCTGA	0.577000													31	133					0	0	1	0	0
OR4B1	119765	broad.mit.edu	37	11	48239251	48239251	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr11:48239251G>A	ENST00000309562.2	+	1	908	c.890G>A	c.(889-891)aGa>aAa	p.R297K		NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B, member 1	297					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						ATCGCCATAAGAAGATTGTGG	0.418000													5	36					0	0	1	0	0
LINGO2	158038	broad.mit.edu	37	9	27948907	27948907	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr9:27948907C>T	ENST00000379992.2	-	6	2212	c.1763G>A	c.(1762-1764)gGt>gAt	p.G588D	LINGO2_ENST00000308675.3_Missense_Mutation_p.G588D	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	588						integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		CACAACAGCACCATTGTTTTT	0.453000													6	29					0	0	1	0	0
GPHN	10243	broad.mit.edu	37	14	67389392	67389392	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr14:67389392C>T	ENST00000478722.1	+	7	1587	c.466C>T	c.(466-468)Caa>Taa	p.Q156*	GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000459628.1_Nonsense_Mutation_p.Q138*|GPHN_ENST00000315266.5_Nonsense_Mutation_p.Q156*|GPHN_ENST00000305960.9_Nonsense_Mutation_p.Q125*|GPHN_ENST00000543237.1_Nonsense_Mutation_p.Q169*	NM_020806.4	NP_065857.1	Q9NQX3	GEPH_HUMAN	gephyrin	156	Interaction with GABARAP (By similarity).|MPT Mo-transferase.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity			large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		GGAATGCTTTCAATTCATACT	0.368000			T	MLL	AL								9	76					0	0	1	0	0
MAP2K1	5604	broad.mit.edu	37	15	66774131	66774131	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr15:66774131G>A	ENST00000307102.5	+	6	1138	c.607G>A	c.(607-609)Gag>Aag	p.E203K	MAP2K1_ENST00000566326.1_Missense_Mutation_p.E27K	NM_002755.3	NP_002746.1	Q02750	MP2K1_HUMAN	mitogen-activated protein kinase kinase 1	203	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|plasma membrane	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E203K(4)		endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20						CTCCCGTGGGGAGATCAAGCT	0.522000													26	88					0	0	1	0	0
CCDC138	165055	broad.mit.edu	37	2	109463246	109463246	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr2:109463246G>A	ENST00000295124.4	+	12	1436	c.1376G>A	c.(1375-1377)gGa>gAa	p.G459E	CCDC138_ENST00000412964.2_Missense_Mutation_p.G459E	NM_144978.1	NP_659415.1	Q96M89	CC138_HUMAN	coiled-coil domain containing 138	459										endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	14						ATTTTTAAAGGAGTGGTAACT	0.348000													5	44					0	0	1	0	0
POM121L12	285877	broad.mit.edu	37	7	53103724	53103724	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr7:53103724G>A	ENST00000408890.4	+	1	376	c.360G>A	c.(358-360)atG>atA	p.M120I		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	120										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						AGGGTTGCATGAAAGGGGGGC	0.706000													8	58					0	0	1	0	0
PCDH20	64881	broad.mit.edu	37	13	61986959	61986959	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr13:61986959C>T	ENST00000409186.1	-	5	3378	c.1273G>A	c.(1273-1275)Gaa>Aaa	p.E425K	PCDH20_ENST00000409204.4_Missense_Mutation_p.E425K			Q8N6Y1	PCD20_HUMAN	protocadherin 20	398	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		GGGACAATTTCAGGGGGTCTG	0.448000													13	66					0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75865438	75865438	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr6:75865438C>G	ENST00000322507.8	-	16	3692	c.3383G>C	c.(3382-3384)aGa>aCa	p.R1128T	COL12A1_ENST00000483888.2_Missense_Mutation_p.R1128T|COL12A1_ENST00000416123.2_Missense_Mutation_p.R1128T|COL12A1_ENST00000345356.6_Intron	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1128	Fibronectin type-III 8.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CCCCAGTCTTCTGTCATCCCC	0.468000													3	64					0	0	1	0	0
ATP8A2	51761	broad.mit.edu	37	13	26129185	26129185	+	Silent	SNP	C	C	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr13:26129185C>T	ENST00000381655.2	+	13	1384	c.1242C>T	c.(1240-1242)aaC>aaT	p.N414N	ATP8A2_ENST00000255283.8_Silent_p.N374N	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	374					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		GGACATCAAACCTTAATGAAG	0.428000													3	28					0	0	1	0	0
GPC1	2817	broad.mit.edu	37	2	241404942	241404942	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr2:241404942G>A	ENST00000264039.2	+	8	1569	c.1321G>A	c.(1321-1323)Gag>Aag	p.E441K		NM_002081.2	NP_002072.2	P35052	GPC1_HUMAN	glypican 1	441					axon guidance	anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	9		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;4.51e-33)|all cancers(36;1.74e-30)|OV - Ovarian serous cystadenocarcinoma(60;4.73e-15)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;9.1e-06)|Colorectal(34;0.000487)|Lung(119;0.0013)|LUSC - Lung squamous cell carcinoma(224;0.0154)|COAD - Colon adenocarcinoma(134;0.0194)|READ - Rectum adenocarcinoma(96;0.0949)		CAACAACCCCGAGGTGGAGGT	0.622000													14	103					0	0	1	0	0
BTNL3	10917	broad.mit.edu	37	5	180419923	180419923	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr5:180419923C>T	ENST00000342868.6	+	2	344	c.160C>T	c.(160-162)Cgg>Tgg	p.R54W		NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3	54					lipid metabolic process	integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			TATGGAAGTGCGGTTCTTCAG	0.552000													4	80					0	0	1	0	0
NAGK	55577	broad.mit.edu	37	2	71303799	71303799	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr2:71303799C>T	ENST00000418807.3	+	7	744	c.580C>T	c.(580-582)Cac>Tac	p.H194Y	NAGK_ENST00000455662.2_Missense_Mutation_p.H291Y|NAGK_ENST00000244204.5_Missense_Mutation_p.H245Y			Q9UJ70	NAGK_HUMAN	N-acetylglucosamine kinase	245					N-acetylglucosamine metabolic process|N-acetylmannosamine metabolic process		ATP binding|N-acetylglucosamine kinase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|urinary_tract(1)	18					N-Acetyl-D-glucosamine(DB00141)	GCTGGGCAGACACATCGTAGC	0.592000													8	81					0	0	1	0	0
DLX6	1750	broad.mit.edu	37	7	96635340	96635340	+	Silent	SNP	C	C	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr7:96635340C>T	ENST00000518156.2	+	1	481	c.51C>T	c.(49-51)tcC>tcT	p.S17S	DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS1_ENST00000605417.1_RNA|DLX6-AS1_ENST00000437331.2_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6_ENST00000007660.5_Silent_p.S17S|DLX6-AS1_ENST00000430404.2_RNA|DLX6-AS1_ENST00000437541.1_RNA|DLX6-AS1_ENST00000430027.2_RNA			P56179	DLX6_HUMAN	distal-less homeobox 6	0					nervous system development|skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					AGGACTCGTCCAAATCCGCCT	0.617000													3	28					0	0	1	0	0
SMC6	79677	broad.mit.edu	37	2	17846834	17846834	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr2:17846834G>A	ENST00000448223.2	-	28	3477	c.3208C>T	c.(3208-3210)Cct>Tct	p.P1070S	SMC6_ENST00000351948.4_Missense_Mutation_p.P1070S|SMC6_ENST00000381272.4_Missense_Mutation_p.P1096S|SMC6_ENST00000402989.1_Missense_Mutation_p.P1070S	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6	1070					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CCTCTTTCAGGATCAGACATT	0.368000													3	54					0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89346628	89346628	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr16:89346628C>T	ENST00000301030.4	-	9	6782	c.6322G>A	c.(6322-6324)Ggc>Agc	p.G2108S	ANKRD11_ENST00000378330.2_Missense_Mutation_p.G2108S	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	2108	Pro-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TGAGACAGGCCGCGGCTGCCG	0.731000													4	12					0	0	1	0	0
ELMO1	9844	broad.mit.edu	37	7	37272719	37272719	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr7:37272719G>A	ENST00000310758.4	-	8	1177	c.530C>T	c.(529-531)tCg>tTg	p.S177L	ELMO1_ENST00000448602.1_Missense_Mutation_p.S177L|ELMO1_ENST00000442504.1_Missense_Mutation_p.S177L	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	177					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						GAACGCCACCGAAAATGTATC	0.463000													3	52					0	0	1	0	0
PCDHB5	26167	broad.mit.edu	37	5	140516182	140516182	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr5:140516182C>T	ENST00000231134.5	+	1	1383	c.1166C>T	c.(1165-1167)cCc>cTc	p.P389L		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		389	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AATGATCTCCCCTTTCTTTTG	0.473000													3	45					0	0	1	0	0
PRPF6	24148	broad.mit.edu	37	20	62655924	62655924	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr20:62655924C>T	ENST00000535781.1	+	14	1897	c.1786C>T	c.(1786-1788)Ctc>Ttc	p.L596F	ZNF512B_ENST00000450537.1_Intron|ZNF512B_ENST00000217130.3_Intron			O94906	PRP6_HUMAN	pre-mRNA processing factor 6	596					assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)					CCTGGAAGCACTCCTGCAGAG	0.622000													16	64					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41684283	41684283	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr21:41684283G>A	ENST00000400454.1	-	9	2264	c.1787C>T	c.(1786-1788)cCg>cTg	p.P596L		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	596	Ig-like C2-type 7.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TATGAAAGGCGGAACTGCAAG	0.448000													3	18					0	0	1	0	0
TMIGD1	388364	broad.mit.edu	37	17	28651902	28651902	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr17:28651902C>T	ENST00000328886.4	-	4	644	c.572G>A	c.(571-573)gGa>gAa	p.G191E	TMIGD1_ENST00000538566.2_Missense_Mutation_p.G191E	NM_206832.1	NP_996663.1	Q6UXZ0	TMIG1_HUMAN	transmembrane and immunoglobulin domain containing 1	191	Ig-like C2-type 2.					integral to membrane				breast(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	12						ACTGTAGGTTCCGTTGTCAGG	0.423000													9	86					0	0	1	0	0
VEZT	55591	broad.mit.edu	37	12	95656847	95656847	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr12:95656847C>T	ENST00000436874.1	+	4	529	c.424C>T	c.(424-426)Cct>Tct	p.P142S	VEZT_ENST00000356859.4_3'UTR|VEZT_ENST00000261219.6_Missense_Mutation_p.P94S	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	142						acrosomal vesicle|adherens junction|integral to membrane|nucleus				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						CCTGGCAACCCCTAATATTTG	0.448000													11	175					0	0	1	0	0
NXN	64359	broad.mit.edu	37	17	726987	726987	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr17:726987C>T	ENST00000336868.3	-	3	588	c.497G>A	c.(496-498)gGa>gAa	p.G166E	NXN_ENST00000575801.1_Missense_Mutation_p.G58E|NXN_ENST00000537628.2_5'UTR|NXN_ENST00000577098.1_5'UTR	NM_022463.4	NP_071908.2	Q6DKJ4	NXN_HUMAN	nucleoredoxin	166					cell differentiation|cell redox homeostasis|multicellular organismal development|Wnt receptor signaling pathway	cytosol|nucleus	protein-disulfide reductase activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (25;0.0237)		GGGTTTCGGTCCCCAGGGGAA	0.542000													6	57					0	0	1	0	0
OR3A3	8392	broad.mit.edu	37	17	3324457	3324457	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr17:3324457C>T	ENST00000291231.1	+	1	596	c.596C>T	c.(595-597)tCc>tTc	p.S199F		NM_012373.2	NP_036505.2	P47888	OR3A3_HUMAN	olfactory receptor, family 3, subfamily A, member 3	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)	9						CTCTCCTGCTCCAGCACCCAA	0.552000													15	66					0	0	1	0	0
SLC6A1	6529	broad.mit.edu	37	3	11059590	11059590	+	Silent	SNP	G	G	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr3:11059590G>A	ENST00000287766.4	+	4	721	c.300G>A	c.(298-300)ctG>ctA	p.L100L	SLC6A1_ENST00000536032.1_Intron|SLC6A1-AS1_ENST00000414969.2_RNA	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	100					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	TCTTCCTGCTGGAGTGCTCCC	0.577000													27	160					0	0	1	0	0
FER1L5	90342	broad.mit.edu	37	2	97366109	97366109	+	RNA	SNP	G	G	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr2:97366109G>A	ENST00000457909.1	+	0	4474							A0AVI2	FR1L5_HUMAN	fer-1-like 5 (C. elegans)							integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						GACCCAAGAAGGAACGCCTTG	0.587000													10	64					0	0	1	0	0
KIF15	56992	broad.mit.edu	37	3	44847370	44847370	+	Silent	SNP	G	G	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr3:44847370G>A	ENST00000326047.4	+	16	2012	c.1863G>A	c.(1861-1863)caG>caA	p.Q621Q	KIF15_ENST00000425755.1_Silent_p.Q256Q	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	621					blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		CAGAGCTTCAGTCTTTGCAAA	0.343000													8	80					0	0	1	0	0
RGPD4	285190	broad.mit.edu	37	2	108489194	108489194	+	Silent	SNP	G	G	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr2:108489194G>A	ENST00000408999.3	+	20	4811	c.4734G>A	c.(4732-4734)ttG>ttA	p.L1578L	RGPD4_ENST00000354986.4_Silent_p.L1578L	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1578					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						ATGCATCTTTGAAAAGTAACA	0.353000													25	98					0	0	1	0	0
WTAP	9589	broad.mit.edu	37	6	160176365	160176365	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr6:160176365T>C	ENST00000358372.4	+	8	2670	c.913T>C	c.(913-915)Tct>Cct	p.S305P	SOD2_ENST00000546087.1_Intron	NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	Q15007	FL2D_HUMAN	Wilms tumor 1 associated protein	305					cell cycle|mRNA processing|RNA splicing	nuclear membrane|nucleolus				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)		TGACTTTCCTTCTTCTCCAGG	0.512000													8	57					0	0	1	0	0
C12orf50	160419	broad.mit.edu	37	12	88391952	88391952	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr12:88391952T>A	ENST00000298699.2	-	4	329	c.149A>T	c.(148-150)aAa>aTa	p.K50I	C12orf50_ENST00000550553.1_Missense_Mutation_p.K50I	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN	chromosome 12 open reading frame 50	50										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						CTGAATTTCTTTCTGTAGTGT	0.373000													5	20					0	0	1	0	0
ZKSCAN5	23660	broad.mit.edu	37	7	99128995	99128995	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr7:99128995C>T	ENST00000394170.2	+	7	1894	c.1643C>T	c.(1642-1644)cCa>cTa	p.P548L	ZKSCAN5_ENST00000326775.5_Missense_Mutation_p.P548L|ZKSCAN5_ENST00000451158.1_Missense_Mutation_p.P548L	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	548					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					GGAGAGAGACCACATAAATGT	0.418000													7	61					0	0	1	0	0
RNF139	11236	broad.mit.edu	37	8	125498264	125498264	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr8:125498264C>A	ENST00000303545.3	+	2	746	c.374C>A	c.(373-375)tCg>tAg	p.S125*		NM_007218.3	NP_009149.2	Q8WU17	RN139_HUMAN	ring finger protein 139	125					negative regulation of cell proliferation|regulation of protein ubiquitination	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(1)	20	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			AAAGGTCCCTCGCTGTGGATG	0.398000													3	65					0.014758	0.0148677	1	1	0
NLRX1	79671	broad.mit.edu	37	11	119044728	119044728	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr11:119044728G>C	ENST00000409109.1	+	5	1357	c.770G>C	c.(769-771)gGa>gCa	p.G257A	NLRX1_ENST00000292199.2_Missense_Mutation_p.G257A|NLRX1_ENST00000525863.1_Missense_Mutation_p.G257A|NLRX1_ENST00000409991.1_Missense_Mutation_p.G257A|NLRX1_ENST00000409265.4_Missense_Mutation_p.G257A			Q86UT6	NLRX1_HUMAN	NLR family member X1	257	NACHT.|Required for interaction with MAVS.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GCAGGCACGGGACTTTGTAGT	0.592000													9	64					0	0	1	0	0
GPN2	54707	broad.mit.edu	37	1	27215604	27215604	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr1:27215604G>A	ENST00000374135.4	-	2	624	c.424C>T	c.(424-426)Cac>Tac	p.H142Y		NM_018066.3	NP_060536.3	Q9H9Y4	GPN2_HUMAN	GPN-loop GTPase 2	142							GTP binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9						TCCACGAGGTGGACGGCAGTC	0.557000													6	47					0	0	1	0	0
IGSF9	57549	broad.mit.edu	37	1	159912857	159912857	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr1:159912857C>T	ENST00000368094.1	-	3	340	c.143G>A	c.(142-144)gGc>gAc	p.G48D	IGSF9_ENST00000361509.3_Missense_Mutation_p.G48D	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	48	Ig-like 1.					cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			ggggggccggccggccggggg	0.642000													18	56					0	0	1	0	0
ERMAP	114625	broad.mit.edu	37	1	43296766	43296766	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr1:43296766C>T	ENST00000328249.3	+	1	1181	c.143C>T	c.(142-144)aCc>aTc	p.T48I	ERMAP_ENST00000487556.1_Intron|ERMAP_ENST00000372514.3_Missense_Mutation_p.T138I|ERMAP_ENST00000372517.2_Missense_Mutation_p.T138I			Q96PL5	ERMAP_HUMAN	erythroblast membrane-associated protein (Scianna blood group)	138	Ig-like V-type.					integral to membrane|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AAAGAGGACACCGTGATCCTG	0.498000													6	31					0	0	1	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178551987	178551987	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr5:178551987C>T	ENST00000251582.7	-	19	3046	c.2945G>A	c.(2944-2946)gGg>gAg	p.G982E		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	982	TSP type-1 4.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GGACCAGGGCCCGGCTCGCCA	0.692000													8	68					0	0	1	0	0
SFRP4	6424	broad.mit.edu	37	7	37951872	37951872	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr7:37951872C>T	ENST00000436072.2	-	4	1017	c.640G>A	c.(640-642)Gtc>Atc	p.V214I	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	214	NTR.				brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						ACCGTTGTGACCTCATTGCAG	0.418000													5	44					0	0	1	0	0
PCDHB6	56130	broad.mit.edu	37	5	140530763	140530763	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr5:140530763G>A	ENST00000231136.1	+	1	925	c.925G>A	c.(925-927)Gaa>Aaa	p.E309K	PCDHB6_ENST00000543635.1_Missense_Mutation_p.E173K	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		309	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGATTTTGAGGAAATTCAGTC	0.463000													5	63					0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82815203	82815203	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr5:82815203G>A	ENST00000265077.3	+	7	1643	c.1078G>A	c.(1078-1080)Gca>Aca	p.A360T	VCAN_ENST00000343200.5_Intron|VCAN_ENST00000342785.4_Missense_Mutation_p.A360T|VCAN_ENST00000512590.2_Missense_Mutation_p.A312T|VCAN_ENST00000502527.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	360	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		GAGTATCCTCGCAGAAACTGC	0.368000													7	100					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38601810	38601810	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr3:38601810C>T	ENST00000413689.1	-	23	4266	c.4073G>A	c.(4072-4074)gGg>gAg	p.G1358E	SCN5A_ENST00000449557.2_Missense_Mutation_p.G1304E|SCN5A_ENST00000443581.1_Missense_Mutation_p.G1357E|SCN5A_ENST00000425664.1_Missense_Mutation_p.G1358E|SCN5A_ENST00000414099.2_Missense_Mutation_p.G1358E|SCN5A_ENST00000333535.4_Missense_Mutation_p.G1358E|SCN5A_ENST00000423572.2_Missense_Mutation_p.G1357E|SCN5A_ENST00000455624.2_Missense_Mutation_p.G1357E|SCN5A_ENST00000451551.2_Missense_Mutation_p.G1304E|SCN5A_ENST00000450102.2_Missense_Mutation_p.G1304E	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1358					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CCCAAACTTCCCCGCAAAGAG	0.542000													12	85					0	0	1	0	0
SEMA5B	54437	broad.mit.edu	37	3	122632785	122632785	+	Silent	SNP	G	G	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr3:122632785G>A	ENST00000195173.4	-	15	2355	c.2052C>T	c.(2050-2052)ttC>ttT	p.F684F	SEMA5B_ENST00000357599.3_Silent_p.F684F|SEMA5B_ENST00000451055.2_Silent_p.F738F			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	684	TSP type-1 1.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		GGCGGACCTGGAAGCCGATGC	0.687000													29	126					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57578672	57578672	+	Silent	SNP	C	C	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr12:57578672C>T	ENST00000243077.3	+	39	6703	c.6237C>T	c.(6235-6237)atC>atT	p.I2079I		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2079					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TTGAACGGATCGACCTGGAGA	0.547000													7	59					0	0	1	0	0
IGDCC3	9543	broad.mit.edu	37	15	65621770	65621770	+	Silent	SNP	G	G	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr15:65621770G>A	ENST00000327987.4	-	13	2414	c.2163C>T	c.(2161-2163)ttC>ttT	p.F721F		NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	721								p.F721L(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TGGCCGGGGGGAACAGCTGCT	0.637000													44	243					0	0	1	0	0
EGR3	1960	broad.mit.edu	37	8	22548017	22548017	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr8:22548017G>A	ENST00000317216.2	-	2	1490	c.1133C>T	c.(1132-1134)tCg>tTg	p.S378L	RP11-459E5.1_ENST00000523627.1_RNA|EGR3_ENST00000524088.1_5'UTR|EGR3_ENST00000522910.1_Missense_Mutation_p.S340L|EGR3_ENST00000519492.1_3'UTR	NM_001199881.1|NM_004430.2	NP_001186810.1|NP_004421.2	Q06889	EGR3_HUMAN	early growth response 3	378					circadian rhythm|muscle organ development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Prostate(55;0.0421)|Breast(100;0.102)		Colorectal(74;0.0145)|BRCA - Breast invasive adenocarcinoma(99;0.053)|COAD - Colon adenocarcinoma(73;0.0608)		GGGGGCCAGCGACACGGGGGG	0.672000													4	47					0	0	1	0	0
OR2A2	442361	broad.mit.edu	37	7	143807033	143807033	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr7:143807033G>A	ENST00000408979.2	+	1	427	c.358G>A	c.(358-360)Gat>Aat	p.D120N		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					GATGTCCTATGATAGGTATGT	0.468000													6	51					0	0	1	0	0
SLC34A3	142680	broad.mit.edu	37	9	140126553	140126553	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr9:140126553G>A	ENST00000538474.1	+	3	339	c.115G>A	c.(115-117)Gaa>Aaa	p.E39K	SLC34A3_ENST00000361134.2_Missense_Mutation_p.E39K	NM_001177316.1|NM_001177317.1	NP_001170787.1|NP_001170788.1	Q8N130	NPT2C_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 3	39					cellular phosphate ion homeostasis	apical plasma membrane|integral to membrane	sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		AGTCTTGGAGGAAGGGGACAC	0.627000													26	240					0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	10973694	10973694	+	Silent	SNP	G	G	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr5:10973694G>A	ENST00000304623.8	-	22	3738	c.3549C>T	c.(3547-3549)agC>agT	p.S1183S	CTNND2_ENST00000503622.1_Silent_p.S846S|CTNND2_ENST00000511377.1_Silent_p.S1092S|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000359640.2_Silent_p.S1125S|CTNND2_ENST00000458100.2_Silent_p.S750S	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	1183					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	p.S1183S(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TGGTGTACTCGCTGGCGGGAG	0.522000													23	105					0	0	1	0	0
SPACA1	81833	broad.mit.edu	37	6	88768507	88768507	+	Silent	SNP	C	C	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr6:88768507C>T	ENST00000237201.1	+	4	558	c.441C>T	c.(439-441)ttC>ttT	p.F147F		NM_030960.2	NP_112222.1	Q9HBV2	SACA1_HUMAN	sperm acrosome associated 1	147						integral to membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	20		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.11)		TAAATCGTTTCAAATATATGT	0.333000													5	23					0	0	1	0	0
SP140	11262	broad.mit.edu	37	2	231109788	231109788	+	Splice_Site	SNP	T	T	G			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr2:231109788T>G	ENST00000417495.3	+	6	758		c.e6+2		SP140_ENST00000392045.3_Silent_p.G219G|SP140_ENST00000420434.3_Silent_p.G219G|SP140_ENST00000343805.6_Silent_p.G219G|SP140_ENST00000350136.5_Silent_p.G199G|SP140_ENST00000486687.2_Silent_p.G219G			Q13342	LY10_HUMAN	SP140 nuclear body protein						defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TACTACCAGGTGGGGGAGGTA	0.453000													4	18					0	0	1	0	0
TMCC1	23023	broad.mit.edu	37	3	129547017	129547017	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr3:129547017C>T	ENST00000393238.3	-	3	545	c.205G>A	c.(205-207)Gat>Aat	p.D69N	TMCC1_ENST00000426664.2_Intron	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	69						integral to membrane			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						TGCTGCACATCATGTGGAGAC	0.502000													8	65					0	0	1	0	0
OR2G3	81469	broad.mit.edu	37	1	247769724	247769724	+	Silent	SNP	C	C	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr1:247769724C>T	ENST00000320002.2	+	1	869	c.837C>T	c.(835-837)acC>acT	p.T279T	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	279					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TCTTCTACACCATGGTGACCC	0.428000													4	42					0	0	1	0	0
RANBP9	10048	broad.mit.edu	37	6	13711709	13711709	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr6:13711709G>T	ENST00000011619.3	-	1	87	c.29C>A	c.(28-30)cCg>cAg	p.P10Q		NM_005493.2	NP_005484.2	Q96S59	RANB9_HUMAN	RAN binding protein 9	10	Poly-Pro.				axon guidance|microtubule nucleation|protein complex assembly	cytosol|microtubule associated complex|nucleus	Ran GTPase binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.223)			ctgctgctgcggcggcggcgg	0.761000													3	20					0.115264	0.115691	1	1	0
UBB	7314	broad.mit.edu	37	17	16285382	16285382	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr17:16285382G>A	ENST00000302182.3	+	2	553	c.161G>A	c.(160-162)cGt>cAt	p.R54H	UBB_ENST00000395837.1_Missense_Mutation_p.R54H|UBB_ENST00000395839.1_Missense_Mutation_p.R54H|UBB_ENST00000578649.1_Intron|UBB_ENST00000535788.1_Missense_Mutation_p.R54H	NM_018955.2	NP_061828.1	P0CG47	UBB_HUMAN	ubiquitin B	54	Ubiquitin-like 1.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		GAAGATGGCCGTACTCTTTCT	0.547000													4	125					0	0	1	0	0
ZNF366	167465	broad.mit.edu	37	5	71757314	71757314	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr5:71757314C>T	ENST00000318442.5	-	2	500	c.10G>A	c.(10-12)Gaa>Aaa	p.E4K		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	4					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		ATCTTCATTTCCTTCTGCATC	0.423000													8	70					0	0	1	0	0
UNC119	9094	broad.mit.edu	37	17	26874714	26874714	+	Silent	SNP	G	G	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr17:26874714G>A	ENST00000484980.1	-	3	3467	c.306C>T	c.(304-306)ccC>ccT	p.P102P	UNC119_ENST00000470125.1_Silent_p.P102P|UNC119_ENST00000335765.4_Silent_p.P197P|UNC119_ENST00000301032.4_Silent_p.P197P			Q13432	U119A_HUMAN	unc-119 homolog (C. elegans)	197					phototransduction|synaptic transmission|visual perception	cytosol|soluble fraction				breast(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	7	Lung NSC(42;0.00431)					CGGAGAGAGGGGGGAAGTCGT	0.597000											OREG0024277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	73					0	0	1	0	0
USP6	9098	broad.mit.edu	37	17	5048750	5048750	+	Silent	SNP	C	C	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr17:5048750C>T	ENST00000574788.1	+	27	4273	c.2043C>T	c.(2041-2043)ttC>ttT	p.F681F	USP6_ENST00000304328.5_Silent_p.F364F|USP6_ENST00000250066.6_Silent_p.F681F|USP6_ENST00000332776.4_Silent_p.F681F			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	681					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						TGGATTTGTTCCATGGGCAGC	0.383000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts								10	48					0	0	1	0	0
FAM66D	100132923	broad.mit.edu	37	8	11986560	11986560	+	RNA	SNP	G	G	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr8:11986560G>A	ENST00000434078.2	+	0	608					NR_027425.1																						CCCATATTCTGGAGACCAGCT	0.557000													8	40					0	0	1	0	0
WDFY3	23001	broad.mit.edu	37	4	85660251	85660251	+	Silent	SNP	C	C	T	rs140312391		TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr4:85660251C>T	ENST00000322366.6	-	40	6893	c.6486G>A	c.(6484-6486)ctG>ctA	p.L2162L	WDFY3_ENST00000295888.4_Silent_p.L2162L			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2162						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CTTCTGCTTCCAGTCCAAATC	0.403000													11	45					0	0	1	0	0
SRRT	51593	broad.mit.edu	37	7	100482173	100482173	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr7:100482173G>A	ENST00000388793.4	+	7	1162	c.942_splice	c.e7+1	p.Q314_splice	SRRT_ENST00000432932.1_Splice_Site_p.Q314_splice|SRRT_ENST00000457580.2_Splice_Site_p.Q314_splice|SRRT_ENST00000347433.4_Splice_Site_p.Q314_splice	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN	serrate RNA effector molecule homolog (Arabidopsis)	314	Glu-rich.				cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						ACGGCAAGCAGGTCCGAGCCC	0.617000													4	38					0	0	1	0	0
ZNF799	90576	broad.mit.edu	37	19	12501446	12501446	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr19:12501446T>C	ENST00000419318.1	-	4	2419	c.1670A>G	c.(1669-1671)gAa>gGa	p.E557G	CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000430385.3_Missense_Mutation_p.E589G			Q96GE5	ZN799_HUMAN	zinc finger protein 799	589					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						TTCCTTACATTCATACGGGTT	0.413000													3	26					0	0	1	0	0
CD177	57126	broad.mit.edu	37	19	43859822	43859822	+	RNA	SNP	C	C	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr19:43859822C>T	ENST00000378009.4	+	0	431				CD177_ENST00000607517.1_RNA	NM_020406.2	NP_065139.2	Q8N6Q3	CD177_HUMAN	CD177 molecule						blood coagulation|leukocyte migration	anchored to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5		Prostate(69;0.00682)				GACCCAGGATCCTTGAGGTGC	0.547000													10	89					0	0	1	0	0
SPATA13	221178	broad.mit.edu	37	13	24823810	24823810	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr13:24823810C>T	ENST00000424834.2	+	5	2322	c.1849C>T	c.(1849-1851)Cgt>Tgt	p.R617C	SPATA13_ENST00000382108.3_Missense_Mutation_p.R617C|SPATA13_ENST00000382095.4_5'UTR			Q96N96	SPT13_HUMAN	spermatogenesis associated 13	0	C-terminal tail.				cell migration|filopodium assembly|lamellipodium assembly|regulation of cell migration|regulation of Rho protein signal transduction	cytoplasm|filopodium|lamellipodium|ruffle membrane	protein binding|Rac guanyl-nucleotide exchange factor activity			breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		GAAGGAAGACCGTGTGGACGA	0.622000													12	120					0	0	1	0	0
DZIP1	22873	broad.mit.edu	37	13	96237103	96237103	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr13:96237103C>T	ENST00000347108.3	-	20	2843	c.2411G>A	c.(2410-2412)gGa>gAa	p.G804E	DZIP1_ENST00000361156.3_Missense_Mutation_p.G785E|DZIP1_ENST00000361396.2_Missense_Mutation_p.G785E|DZIP1_ENST00000376829.2_Missense_Mutation_p.G804E			Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	804					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			AGATTTTTTTCCCAAAGATAT	0.428000													4	34					0	0	1	0	0
PID1	55022	broad.mit.edu	37	2	229890687	229890687	+	Silent	SNP	G	G	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr2:229890687G>A	ENST00000392054.3	-	4	747	c.408C>T	c.(406-408)atC>atT	p.I136I	PID1_ENST00000409462.1_Silent_p.I56I|PID1_ENST00000354069.6_Silent_p.I138I|PID1_ENST00000392055.3_Silent_p.I105I|PID1_ENST00000482518.2_Intron	NM_017933.4	NP_060403.3	Q7Z2X4	PCLI1_HUMAN	phosphotyrosine interaction domain containing 1	138	PID.					cytoplasm				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		GGAATGGCCGGATTTCCAGGA	0.567000													5	63					0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36873580	36873580	+	Silent	SNP	C	C	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr3:36873580C>T	ENST00000301807.6	-	21	7609	c.5712G>A	c.(5710-5712)aaG>aaA	p.K1904K	TRANK1_ENST00000428977.2_Silent_p.K1904K|TRANK1_ENST00000429976.2_Silent_p.K2454K	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2454					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CCCCAAGCTCCTTGTCCTTCT	0.512000													11	60					0	0	1	0	0
YTHDF1	54915	broad.mit.edu	37	20	61835092	61835092	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr20:61835092G>A	ENST00000370339.3	-	4	541	c.200C>T	c.(199-201)cCt>cTt	p.P67L	YTHDF1_ENST00000370334.4_Intron|YTHDF1_ENST00000370333.4_Missense_Mutation_p.P17L	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	67										NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						GAGGGAGTAAGGAAATCCAAT	0.512000													21	59					0	0	1	0	0
TRAV13-1	28671	broad.mit.edu	37	14	22337305	22337305	+	RNA	SNP	C	C	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr14:22337305C>T	ENST00000390436.2	+	0	119																											CCCTGAGTGTCCAGGAGGGAG	0.438000													8	50					0	0	1	0	0
GALNT15	117248	broad.mit.edu	37	3	16217065	16217065	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr3:16217065G>A	ENST00000339732.5	+	1	910	c.407G>A	c.(406-408)gGg>gAg	p.G136E	GALNT15_ENST00000470031.1_3'UTR|GALNT15_ENST00000437509.1_Missense_Mutation_p.G136E	NM_054110.4	NP_473451.3			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15																		AGGGACTGGGGGGCTGATGAG	0.637000													8	29					0	0	1	0	0
OR2K2	26248	broad.mit.edu	37	9	114090456	114090456	+	Silent	SNP	C	C	G			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr9:114090456C>G	ENST00000374428.1	-	1	344	c.345G>C	c.(343-345)ctG>ctC	p.L115L	OR2K2_ENST00000302681.1_Silent_p.L86L			Q8NGT1	OR2K2_HUMAN	olfactory receptor, family 2, subfamily K, member 2	115					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						TCTGGGATGACAGCAAGTTCA	0.468000													3	28					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139158223	139158223	+	Silent	SNP	G	G	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr8:139158223G>A	ENST00000395297.1	-	15	3689	c.3519C>T	c.(3517-3519)ttC>ttT	p.F1173F		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1173										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CAGACATTAGGAAGTCCAGTT	0.438000										HNSCC(54;0.14)			7	44					0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	31995761	31995761	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr5:31995761G>A	ENST00000438447.1	+	4	1446	c.1058G>A	c.(1057-1059)gGa>gAa	p.G353E	PDZD2_ENST00000282493.3_Missense_Mutation_p.G353E			O15018	PDZD2_HUMAN	PDZ domain containing 2	353	PDZ 2.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GGAGGCCGAGGATCAAAGCGC	0.532000													14	60					0	0	1	0	0
NCF1	653361	broad.mit.edu	37	7	74197924	74197924	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr7:74197924G>A	ENST00000289473.4	+	7	701	c.631G>A	c.(631-633)Gag>Aag	p.E211K	NCF1_ENST00000443956.3_3'UTR	NM_000265.4	NP_000256.3	P14598	NCF1_HUMAN	neutrophil cytosolic factor 1	211	Asp/Glu-rich (highly acidic).|SH3 1.				cell communication|cellular defense response|innate immune response|protein targeting to membrane|respiratory burst|superoxide anion generation	cytosol|NADPH oxidase complex|soluble fraction	electron carrier activity|GTP binding|GTPase activity|phosphatidylinositol binding|SH3 domain binding|superoxide-generating NADPH oxidase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10						GTCCTTCCTCGAGCCCCTGGA	0.637000													15	94					0	0	1	0	0
OR11H6	122748	broad.mit.edu	37	14	20692607	20692607	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr14:20692607C>T	ENST00000315519.2	+	1	817	c.739C>T	c.(739-741)Ccc>Tcc	p.P247S		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	247					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		GCTTTGTATTCCCTCTGGTGC	0.473000													5	25					0	0	1	0	0
MAGI1	9223	broad.mit.edu	37	3	65342720	65342720	+	Missense_Mutation	SNP	G	G	A	rs139105394		TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr3:65342720G>A	ENST00000402939.2	-	23	3721	c.3722C>T	c.(3721-3723)tCa>tTa	p.S1241L	MAGI1_ENST00000330909.8_3'UTR	NM_001033057.1	NP_001028229.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	1270					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		GGACTCCAATGACGGATGCTG	0.617000													29	145					0	0	1	0	0
WFDC12	128488	broad.mit.edu	37	20	43752814	43752814	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr20:43752814C>T	ENST00000372785.3	-	2	189	c.172G>A	c.(172-174)Gaa>Aaa	p.E58K		NM_080869.1	NP_543145.1	Q8WWY7	WFD12_HUMAN	WAP four-disulfide core domain 12	58	WAP.				defense response to bacterium	extracellular region	serine-type endopeptidase inhibitor activity	p.E58fs*14(1)		endometrium(1)|large_intestine(2)|lung(2)|skin(1)	6		Myeloproliferative disorder(115;0.0122)				CACTTCCTTTCCCCCAGACAG	0.547000													14	78					0	0	1	0	0
TRAT1	50852	broad.mit.edu	37	3	108572633	108572633	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr3:108572633C>T	ENST00000295756.6	+	6	700	c.470C>T	c.(469-471)tCc>tTc	p.S157F	TRAT1_ENST00000426646.1_Missense_Mutation_p.S120F	NM_016388.2	NP_057472.2	Q6PIZ9	TRAT1_HUMAN	T cell receptor associated transmembrane adaptor 1	157					cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity	p.S157Y(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						GACAGTTTCTCCCCAGAAAGC	0.443000													9	51					0	0	1	0	0
HSD17B7	51478	broad.mit.edu	37	1	162769628	162769628	+	Silent	SNP	C	C	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr1:162769628C>T	ENST00000367917.3	+	5	611	c.543C>T	c.(541-543)ctC>ctT	p.L181L	HSD17B7_ENST00000485405.1_3'UTR|HSD17B7_ENST00000254521.3_Silent_p.L181L			P56937	DHB7_HUMAN	hydroxysteroid (17-beta) dehydrogenase 7	181					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	3-keto sterol reductase activity|estradiol 17-beta-dehydrogenase activity			endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_hematologic(112;0.115)				NADH(DB00157)	ATTTCAGCCTCGAGGACTTCC	0.502000													11	30					0	0	1	0	0
ATP8B2	57198	broad.mit.edu	37	1	154317975	154317975	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr1:154317975C>T	ENST00000368489.3	+	23	2747	c.2747C>T	c.(2746-2748)aCc>aTc	p.T916I		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	902					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TTTGCTTTCACCATGGTCCAC	0.488000											OREG0013835	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	26	248					0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22939426	22939426	+	Silent	SNP	C	C	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr19:22939426C>T	ENST00000397104.3	-	7	2744	c.2745G>A	c.(2743-2745)ccG>ccA	p.P915P						zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				CACATTTGTACGGTTTCTCCC	0.368000													4	44					0	0	1	0	0
DACT1	51339	broad.mit.edu	37	14	59112403	59112403	+	Silent	SNP	G	G	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr14:59112403G>A	ENST00000395153.3	+	4	1098	c.951G>A	c.(949-951)agG>agA	p.R317R	DACT1_ENST00000541264.2_Silent_p.R73R|DACT1_ENST00000395151.3_Silent_p.R73R|DACT1_ENST00000556859.1_Silent_p.R73R|DACT1_ENST00000335867.4_Silent_p.R354R	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	354					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus		p.R354S(1)		endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						ACCCTGTAAGGACCAACAAAC	0.552000													6	22					0	0	1	0	0
NR6A1	2649	broad.mit.edu	37	9	127316631	127316631	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr9:127316631G>A	ENST00000487099.2	-	3	518	c.361C>T	c.(361-363)Ctc>Ttc	p.L121F	NR6A1_ENST00000416460.2_Missense_Mutation_p.L117F|NR6A1_ENST00000344523.4_Missense_Mutation_p.L121F|NR6A1_ENST00000373584.3_Missense_Mutation_p.L117F	NM_001278546.1	NP_001265475.1	Q15406	NR6A1_HUMAN	nuclear receptor subfamily 6, group A, member 1	121					cell proliferation|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	transcription factor complex	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	17						CCCATCTGGAGGCATTTGAGC	0.493000													27	131					0	0	1	0	0
USP29	57663	broad.mit.edu	37	19	57640501	57640501	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr19:57640501C>T	ENST00000254181.4	+	4	912	c.458C>T	c.(457-459)tCa>tTa	p.S153L	USP29_ENST00000598197.1_Missense_Mutation_p.S153L	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	153					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ATGTCAAAATCACCAACACAT	0.363000													7	43					0	0	1	0	0
DACT1	51339	broad.mit.edu	37	14	59112402	59112402	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr14:59112402G>A	ENST00000395153.3	+	4	1097	c.950G>A	c.(949-951)aGg>aAg	p.R317K	DACT1_ENST00000541264.2_Missense_Mutation_p.R73K|DACT1_ENST00000395151.3_Missense_Mutation_p.R73K|DACT1_ENST00000556859.1_Missense_Mutation_p.R73K|DACT1_ENST00000335867.4_Missense_Mutation_p.R354K	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	354					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						CACCCTGTAAGGACCAACAAA	0.557000													6	22					0	0	1	0	0
TBX2	6909	broad.mit.edu	37	17	59485578	59485578	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr17:59485578C>T	ENST00000240328.3	+	7	2131	c.1850C>T	c.(1849-1851)cCc>cTc	p.P617L	RP11-332H18.4_ENST00000592009.1_RNA	NM_005994.3	NP_005985.3	Q13207	TBX2_HUMAN	T-box 2	617					cell aging|positive regulation of cell proliferation		sequence-specific DNA binding			endometrium(1)|lung(7)|ovary(1)	9						AGTGCCCGGCCCCGACTGCGT	0.721000													13	73					0	0	1	0	0
NXN	64359	broad.mit.edu	37	17	726988	726988	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr17:726988C>T	ENST00000336868.3	-	3	587	c.496G>A	c.(496-498)Gga>Aga	p.G166R	NXN_ENST00000575801.1_Missense_Mutation_p.G58R|NXN_ENST00000537628.2_5'UTR|NXN_ENST00000577098.1_5'UTR	NM_022463.4	NP_071908.2	Q6DKJ4	NXN_HUMAN	nucleoredoxin	166					cell differentiation|cell redox homeostasis|multicellular organismal development|Wnt receptor signaling pathway	cytosol|nucleus	protein-disulfide reductase activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (25;0.0237)		GGTTTCGGTCCCCAGGGGAAC	0.547000													5	57					0	0	1	0	0
SEMA4D	10507	broad.mit.edu	37	9	92002452	92002452	+	Silent	SNP	G	G	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr9:92002452G>A	ENST00000450295.1	-	12	1955	c.1179C>T	c.(1177-1179)ttC>ttT	p.F393F	SEMA4D_ENST00000356444.2_Silent_p.F393F|SEMA4D_ENST00000420987.1_Silent_p.F393F|SEMA4D_ENST00000455551.2_Silent_p.F393F|SEMA4D_ENST00000438547.2_Silent_p.F393F|SEMA4D_ENST00000422704.2_Silent_p.F393F|SEMA4D_ENST00000339861.4_Silent_p.F393F|SEMA4D_ENST00000343780.4_Silent_p.F393F			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	393	Sema.				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						GGTCTTTAACGAACTGCAGCG	0.527000													11	75					0	0	1	0	0
SDC3	9672	broad.mit.edu	37	1	31347210	31347210	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr1:31347210C>A	ENST00000336798.7	-	2	2414	c.922G>T	c.(922-924)Gac>Tac	p.D308Y	SDC3_ENST00000339394.6_Missense_Mutation_p.D366Y			O75056	SDC3_HUMAN	syndecan 3	366						integral to membrane	cytoskeletal protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)		STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649)		CTGCCCGAGTCGATGGCATTG	0.667000													10	56					4.3838e-07	4.4662e-07	1	1	0
KRT74	121391	broad.mit.edu	37	12	52963652	52963652	+	Silent	SNP	C	C	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr12:52963652C>T	ENST00000549343.1	-	6	1163	c.1125G>A	c.(1123-1125)gtG>gtA	p.V375V	KRT74_ENST00000305620.2_Silent_p.V375V			Q7RTS7	K2C74_HUMAN	keratin 74	375	Coil 2.|Rod.					keratin filament	structural molecule activity			kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		CCTGCTTCTTCACATTCCCGA	0.582000													7	112					0	0	1	0	0
ME2	4200	broad.mit.edu	37	18	48473491	48473491	+	Silent	SNP	C	C	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr18:48473491C>T	ENST00000321341.5	+	16	1964	c.1692C>T	c.(1690-1692)tcC>tcT	p.S564S	ME2_ENST00000382927.3_3'UTR|ME2_ENST00000585680.1_3'UTR	NM_002396.4	NP_002387.1	P23368	MAOM_HUMAN	malic enzyme 2, NAD(+)-dependent, mitochondrial	564					malate metabolic process	mitochondrial matrix	electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding|NAD binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23		Colorectal(6;0.0273)|all_epithelial(6;0.118)		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)	NADH(DB00157)	AATATGATTCCCTGCTGCCAG	0.433000													25	64					0	0	1	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24261570	24261570	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr8:24261570G>A	ENST00000538205.1	+	14	1685	c.1138G>A	c.(1138-1140)Gat>Aat	p.D380N	ADAMDEC1_ENST00000522298.1_Missense_Mutation_p.D380N|RP11-624C23.1_ENST00000523578.1_RNA|ADAMDEC1_ENST00000256412.4_Missense_Mutation_p.D459N|RP11-624C23.1_ENST00000519689.1_RNA	NM_001145271.1	NP_001138743.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	459	Peptidase M12B.				integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		GCCTGGAACTGATTGCGGAGG	0.408000													7	26					0	0	1	0	0
UNC119	9094	broad.mit.edu	37	17	26874713	26874713	+	Missense_Mutation	SNP	G	G	A	rs150932837		TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr17:26874713G>A	ENST00000484980.1	-	3	3468	c.307C>T	c.(307-309)Cct>Tct	p.P103S	UNC119_ENST00000470125.1_Missense_Mutation_p.P103S|UNC119_ENST00000335765.4_Missense_Mutation_p.P198S|UNC119_ENST00000301032.4_Missense_Mutation_p.P198S			Q13432	U119A_HUMAN	unc-119 homolog (C. elegans)	198					phototransduction|synaptic transmission|visual perception	cytosol|soluble fraction				breast(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	7	Lung NSC(42;0.00431)					TCGGAGAGAGGGGGGAAGTCG	0.597000											OREG0024277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	74					0	0	1	0	0
DDI1	414301	broad.mit.edu	37	11	103908196	103908196	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr11:103908196G>A	ENST00000302259.3	+	1	889	c.646G>A	c.(646-648)Gag>Aag	p.E216K	PDGFD_ENST00000393158.2_Intron|PDGFD_ENST00000302251.5_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	216					proteolysis		aspartic-type endopeptidase activity			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		CAAAATAGAAGAGGAAATCCG	0.488000													9	87					0	0	1	0	0
PRSS16	10279	broad.mit.edu	37	6	27222490	27222490	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr6:27222490C>T	ENST00000230582.3	+	10	1184	c.1169C>T	c.(1168-1170)cCc>cTc	p.P390L	PRSS16_ENST00000377456.2_Intron|PRSS16_ENST00000421826.2_Missense_Mutation_p.P133L	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)	390					protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						TGTGAGAATCCCAGATGTCCT	0.522000													20	182					0	0	1	0	0
IMPDH1	3614	broad.mit.edu	37	7	128041115	128041115	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr7:128041115G>A	ENST00000338791.6	-	6	808	c.458C>T	c.(457-459)tCc>tTc	p.S153F	IMPDH1_ENST00000496200.1_Missense_Mutation_p.S68F|IMPDH1_ENST00000480861.1_Missense_Mutation_p.S68F|IMPDH1_ENST00000470772.1_Missense_Mutation_p.S68F|IMPDH1_ENST00000419067.2_Missense_Mutation_p.S120F|IMPDH1_ENST00000378717.4_Missense_Mutation_p.S84F|IMPDH1_ENST00000354269.5_Missense_Mutation_p.S143F|IMPDH1_ENST00000348127.6_Missense_Mutation_p.S117F|IMPDH1_ENST00000343214.4_Missense_Mutation_p.S68F	NM_000883.3	NP_000874.2	P20839	IMDH1_HUMAN	IMP (inosine 5'-monophosphate) dehydrogenase 1	68	CBS 1.				GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	DNA binding|IMP dehydrogenase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22					Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352)	GTCCATGGGGGAGGAGATCAG	0.577000													15	90					0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37027156	37027156	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chrX:37027156C>G	ENST00000358047.3	+	1	725	c.673C>G	c.(673-675)Cag>Gag	p.Q225E		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	225										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TCTCCGCCCACAGCCTCCCAA	0.647000													4	46					0	0	1	0	0
IGHM	3507	broad.mit.edu	37	14	106322144	106322144	+	RNA	SNP	C	C	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr14:106322144C>T	ENST00000390559.2	-	0	179																											TGCCCCCTCTCAGGACTGATG	0.582000													8	38					0	0	1	0	0
PLEKHA6	22874	broad.mit.edu	37	1	204236633	204236633	+	Silent	SNP	G	G	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr1:204236633G>A	ENST00000272203.3	-	5	566	c.250C>T	c.(250-252)Ctg>Ttg	p.L84L	PLEKHA6_ENST00000414478.1_Silent_p.L84L	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	84	PH.									breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			CGATCCACCAGGACGAACCAG	0.582000													25	128					0	0	1	0	0
GFM1	85476	broad.mit.edu	37	3	158383129	158383129	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr3:158383129G>A	ENST00000486715.1	+	12	1741	c.1384G>A	c.(1384-1386)Gat>Aat	p.D462N	GFM1_ENST00000264263.5_Missense_Mutation_p.D481N|GFM1_ENST00000478576.1_Missense_Mutation_p.D462N|GFM1_ENST00000490261.1_3'UTR	NM_024996.5	NP_079272.4	Q96RP9	EFGM_HUMAN	G elongation factor, mitochondrial 1	462					mitochondrial translational elongation	mitochondrion	GTP binding|GTPase activity|translation elongation factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2)	22			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			TTTAAAGAACGATCTGGAAAA	0.313000													4	14					0	0	1	0	0
PCDHGC4	56098	broad.mit.edu	37	5	140866630	140866630	+	Silent	SNP	G	G	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr5:140866630G>A	ENST00000306593.1	+	1	1890	c.1890G>A	c.(1888-1890)acG>acA	p.T630T	PCDHGB3_ENST00000576222.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1														NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTGCGGACGGCTGTTCCTA	0.527000													3	22					0	0	1	0	0
TMEM105	284186	broad.mit.edu	37	17	79287763	79287763	+	Silent	SNP	C	C	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr17:79287763C>T	ENST00000332900.1	-	3	627	c.78G>A	c.(76-78)gtG>gtA	p.V26V		NM_178520.3	NP_848615.1	Q8N8V8	TM105_HUMAN	transmembrane protein 105	26						integral to membrane				NS(1)|large_intestine(3)|lung(1)|ovary(2)	7	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.0892)			GCTGCCCGATCACATTTCCTG	0.602000													24	95					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149492394	149492394	+	RNA	SNP	C	C	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr7:149492394C>T	ENST00000378016.2	+	0	6283							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGCTGCCCTCCTGGGGGCTCC	0.677000													7	70					0	0	1	0	0
CRYBB1	1414	broad.mit.edu	37	22	27008142	27008142	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr22:27008142C>T	ENST00000215939.2	-	3	323	c.193G>A	c.(193-195)Gaa>Aaa	p.E65K		NM_001887.3	NP_001878.1	P53674	CRBB1_HUMAN	crystallin, beta B1	65	Beta/gamma crystallin 'Greek key' 1.				visual perception		structural constituent of eye lens	p.E65K(1)		breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4)	31						TTTTCCAGTTCGAAGACCACC	0.537000													20	79					0	0	1	0	0
CPXM2	119587	broad.mit.edu	37	10	125521583	125521583	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr10:125521583C>T	ENST00000241305.3	-	11	1736	c.1582G>A	c.(1582-1584)Gac>Aac	p.D528N	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	528					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	p.D528N(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CGCACCAGGTCGTAGGGGTAC	0.647000													36	153					0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166210819	166210819	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr2:166210819G>A	ENST00000375437.2	+	17	3327	c.3037G>A	c.(3037-3039)Gga>Aga	p.G1013R	SCN2A_ENST00000283256.6_Missense_Mutation_p.G1013R|SCN2A_ENST00000357398.3_Missense_Mutation_p.G1013R|SCN2A_ENST00000375427.2_Missense_Mutation_p.G1013R	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1013					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	GATGCAGAAAGGAATCGATTT	0.368000													8	56					0	0	1	0	0
OTOL1	131149	broad.mit.edu	37	3	161220127	161220127	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr3:161220127C>T	ENST00000327928.4	+	3	487	c.487C>T	c.(487-489)Cca>Tca	p.P163S		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	163	Collagen-like 1.					collagen				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						CCAAGGAGTTCCAGGATACCC	0.423000													3	33					0	0	1	0	0
PTH2	113091	broad.mit.edu	37	19	49926533	49926533	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr19:49926533G>C	ENST00000270631.1	-	1	165	c.64C>G	c.(64-66)Ctg>Gtg	p.L22V		NM_178449.3	NP_848544.1	Q96A98	TIP39_HUMAN	parathyroid hormone 2	22					neuropeptide signaling pathway	extracellular region		p.L22V(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836)		GGCACCACcagcagcagcagc	0.692000													4	44					0	0	1	0	0
EPHA8	2046	broad.mit.edu	37	1	22915786	22915786	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr1:22915786G>A	ENST00000374644.4	+	5	1474	c.1402G>A	c.(1402-1404)Gac>Aac	p.D468N	EPHA8_ENST00000166244.3_Intron|EPHA8_ENST00000538803.1_Missense_Mutation_p.D468N	NM_001006943.1	NP_001006944.1	P29322	EPHA8_HUMAN	EPH receptor A8	0	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CTCTGCCGGGGACGTGCTGTG	0.622000													7	67					0	0	1	0	0
COL19A1	1310	broad.mit.edu	37	6	70637889	70637889	+	Silent	SNP	C	C	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr6:70637889C>T	ENST00000322773.4	+	5	457	c.355C>T	c.(355-357)Ctg>Ttg	p.L119L		NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	119	TSP N-terminal.			FRVRRNAKKERWFL -> ETTVPFWRFFVLET (in Ref. 6; AAA36358).	cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						ACGGTGGTTTCTGTGGCAGGT	0.423000													3	26					0	0	1	0	0
SLC6A11	6538	broad.mit.edu	37	3	10861262	10861262	+	Silent	SNP	G	G	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr3:10861262G>A	ENST00000254488.2	+	2	435	c.369G>A	c.(367-369)agG>agA	p.R123R	SLC6A11_ENST00000454147.1_Silent_p.R123R	NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	123					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)		CGTGTTGGAGGAAAGTTTGCC	0.398000													12	77					0	0	1	0	0
PLXNB3	5365	broad.mit.edu	37	X	153036993	153036993	+	Silent	SNP	G	G	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chrX:153036993G>A	ENST00000538966.1	+	15	2740	c.2469G>A	c.(2467-2469)gcG>gcA	p.A823A	PLXNB3_ENST00000538776.1_Silent_p.A453A|PLXNB3_ENST00000538543.1_Intron|PLXNB3_ENST00000538282.1_Silent_p.A410A|PLXNB3_ENST00000361971.5_Silent_p.A800A	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN	plexin B3	800					axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					ACTGCCAAGCGGCCAACAGGA	0.682000													8	31					0	0	1	0	0
OSBP2	23762	broad.mit.edu	37	22	31266588	31266588	+	Silent	SNP	C	C	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr22:31266588C>T	ENST00000332585.6	+	3	1130	c.1026C>T	c.(1024-1026)atC>atT	p.I342I	OSBP2_ENST00000401475.1_5'UTR|OSBP2_ENST00000446658.2_Silent_p.I342I|OSBP2_ENST00000403222.3_Silent_p.I177I|OSBP2_ENST00000382310.3_Silent_p.I342I|OSBP2_ENST00000437268.2_Silent_p.I84I|OSBP2_ENST00000407373.1_Silent_p.I169I	NM_030758.3	NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	342					lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						GCCTCAAGATCCCATCTGAGA	0.577000													7	49					0	0	1	0	0
GALNT13	114805	broad.mit.edu	37	2	155158006	155158006	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr2:155158006C>T	ENST00000392825.3	+	9	1627	c.1060C>T	c.(1060-1062)Cct>Tct	p.P354S	GALNT13_ENST00000409237.1_Missense_Mutation_p.P354S|GALNT13_ENST00000487047.1_3'UTR	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	354						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						ATACACTTTTCCTGGTGGCAC	0.438000													14	116					0	0	1	0	0
CHAMP1	283489	broad.mit.edu	37	13	115090383	115090383	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr13:115090383C>T	ENST00000361283.1	+	3	1375	c.1066C>T	c.(1066-1068)Cct>Tct	p.P356S		NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	ZN828_HUMAN	chromosome alignment maintaining phosphoprotein 1	356	Mediates interaction with MAD2L2.|Pro-rich.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding										TTCTGTATCTCCTGGACCTTG	0.502000													8	103					0	0	1	0	0
PPP2R3B	28227	broad.mit.edu	37	X	322179	322179	+	Silent	SNP	G	G	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chrX:322179G>A	ENST00000390665.3	-	2	489	c.471C>T	c.(469-471)caC>caT	p.H157H		NM_013239.4	NP_037371.2	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'', beta	157					cell cycle arrest|protein dephosphorylation	nucleus|protein phosphatase type 2A complex	calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity			endometrium(5)|lung(5)|skin(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TGGCCCTCTCGTGGGGGAACC	0.637000													7	74					0	0	1	0	0
PTMA	5757	broad.mit.edu	37	2	232576081	232576081	+	Silent	SNP	T	T	C			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr2:232576081T>C	ENST00000409115.3	+	2	267	c.69T>C	c.(67-69)gtT>gtC	p.V23V	PTMA_ENST00000410064.1_Silent_p.V49V|PTMA_ENST00000409683.1_Silent_p.V23V|PTMA_ENST00000409321.1_Silent_p.V44V|PTMA_ENST00000341369.7_Silent_p.V23V|PTMA_ENST00000466801.1_3'UTR	NM_002823.4	NP_002814.3	P06454	PTMA_HUMAN	prothymosin, alpha	23					transcription, DNA-dependent	nucleus				lung(3)|ovary(1)|prostate(1)|skin(1)	6		Renal(207;0.0112)|all_hematologic(139;0.0315)|Acute lymphoblastic leukemia(138;0.0921)|all_lung(227;0.142)		Epithelial(121;1.75e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00221)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		AGAAGGAAGTTGTGGAAGAGG	0.502000													6	59					0	0	1	0	0
CALD1	800	broad.mit.edu	37	7	134618619	134618619	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr7:134618619G>A	ENST00000361675.2	+	5	1328	c.1099G>A	c.(1099-1101)Gca>Aca	p.A367T	CALD1_ENST00000393118.2_Intron|CALD1_ENST00000543443.1_Intron|CALD1_ENST00000417172.1_Intron|CALD1_ENST00000495522.1_Intron|CALD1_ENST00000361388.2_Intron|CALD1_ENST00000361901.2_Intron|CALD1_ENST00000424922.1_Intron|CALD1_ENST00000422748.1_Intron			Q05682	CALD1_HUMAN	caldesmon 1	367	3 X 14 AA tandem repeats of E-E-E-K-R-A- A-E-E-R-Q-R-I-K.				cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						gaaaagggcagcagaggagag	0.507000													3	20					0	0	1	0	0
HECTD4	283450	broad.mit.edu	37	12	112676998	112676998	+	Silent	SNP	G	G	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr12:112676998G>A	ENST00000550722.1	-	34	5105	c.4710C>T	c.(4708-4710)ctC>ctT	p.L1570L	HECTD4_ENST00000430131.2_Silent_p.L1294L|HECTD4_ENST00000377560.5_Silent_p.L1544L	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		GTCGATCCATGAGCTGCACAA	0.532000													32	165					0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1094812	1094812	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr11:1094812C>T	ENST00000441003.2	+	31	5927	c.5900C>T	c.(5899-5901)cCt>cTt	p.P1967L	MUC2_ENST00000333592.6_Missense_Mutation_p.P255L|MUC2_ENST00000361558.6_Missense_Mutation_p.P105L	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	2003						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	AGGCCCTACCCTTCCTCTGTG	0.627000													24	278					0	0	1	0	0
SBK1	388228	broad.mit.edu	37	16	28328854	28328854	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr16:28328854G>A	ENST00000341901.4	+	2	931	c.142G>A	c.(142-144)Gac>Aac	p.D48N		NM_001024401.2	NP_001019572.1	Q52WX2	SBK1_HUMAN	SH3 domain binding kinase 1	48						cytoplasm	ATP binding|protein serine/threonine kinase activity			kidney(1)|lung(3)|ovary(1)	5						GGCCGCCAGCGACGTCACCAA	0.637000											OREG0023701	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	30	101					0	0	1	0	0
TMEM131	23505	broad.mit.edu	37	2	98382600	98382600	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr2:98382600A>T	ENST00000186436.5	-	35	4928	c.4700T>A	c.(4699-4701)gTt>gAt	p.V1567D		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1567						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						GTGAACTGGAACGGAATCCCA	0.507000													10	56					0	0	1	0	0
MUM1L1	139221	broad.mit.edu	37	X	105450805	105450805	+	Silent	SNP	G	G	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chrX:105450805G>A	ENST00000337685.2	+	5	2165	c.1380G>A	c.(1378-1380)gaG>gaA	p.E460E	MUM1L1_ENST00000372552.1_Silent_p.E460E|MUM1L1_ENST00000357175.2_Silent_p.E460E	NM_152423.4	NP_689636.3	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	460										autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						AAGCCAGGGAGGATTATAGTG	0.358000													6	30					0	0	1	0	0
ZC4H2	55906	broad.mit.edu	37	X	64138925	64138925	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chrX:64138925C>T	ENST00000545618.1	-	5	1106	c.543G>A	c.(541-543)atG>atA	p.M181I	ZC4H2_ENST00000337990.2_Missense_Mutation_p.M163I|ZC4H2_ENST00000447788.2_Intron|ZC4H2_ENST00000488608.1_5'UTR|ZC4H2_ENST00000374839.3_Missense_Mutation_p.M186I			Q9NQZ6	ZC4H2_HUMAN	zinc finger, C4H2 domain containing	186							metal ion binding|protein binding			endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CACTTACCTTCATAGGTGGGG	0.577000													13	34					0	0	1	0	0
JPH3	57338	broad.mit.edu	37	16	87678630	87678630	+	Silent	SNP	C	C	T	rs140186033	by1000genomes	TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr16:87678630C>T	ENST00000284262.2	+	2	1391	c.1149C>T	c.(1147-1149)atC>atT	p.I383I		NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	383	Ala-rich.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		AGGCTGAGATCGCGGCTTCCA	0.672000													3	31					0	0	1	0	0
CT47B1	643311	broad.mit.edu	37	X	120009253	120009253	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chrX:120009253G>A	ENST00000371311.3	-	1	526	c.272C>T	c.(271-273)aCg>aTg	p.T91M		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	91								p.T91M(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						ctcttcctccGTCGCGGGCCC	0.706000													4	12					0	0	1	0	0
CTSC	1075	broad.mit.edu	37	11	88033712	88033712	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr11:88033712G>A	ENST00000227266.5	-	5	857	c.743C>T	c.(742-744)cCt>cTt	p.P248L		NM_001814.4	NP_001805.3	P53634	CATC_HUMAN	cathepsin C	248					immune response	lysosome	cysteine-type endopeptidase activity			large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2)	22		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GTTTCGAACAGGACTGACAAA	0.383000													3	37					0	0	1	0	0
PER3	8863	broad.mit.edu	37	1	7861237	7861237	+	Silent	SNP	T	T	C			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr1:7861237T>C	ENST00000377532.3	+	7	1082	c.858T>C	c.(856-858)ctT>ctC	p.L286L	PER3_ENST00000377541.1_Silent_p.L285L|PER3_ENST00000361923.2_Silent_p.L285L			P56645	PER3_HUMAN	period circadian clock 3	285	PAS 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		GTGTTTTTCTTGAAGTAGATG	0.328000													6	56					0	0	1	0	0
KRT16	3868	broad.mit.edu	37	17	39768903	39768903	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr17:39768903G>A	ENST00000301653.4	-	1	102	c.38C>T	c.(37-39)tCc>tTc	p.S13F		NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN	keratin 16	13	Head.				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				GCCCTTCATGGAGCTGGAGGA	0.662000													3	26					0	0	1	0	0
PCDHGA10	56106	broad.mit.edu	37	5	140794689	140794689	+	Silent	SNP	C	C	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr5:140794689C>T	ENST00000398610.2	+	1	1947	c.1947C>T	c.(1945-1947)gcC>gcT	p.A649A	PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1														breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGTAGTGGCCGTCCAGGACC	0.711000													12	119					0	0	1	0	0
PTGER3	5733	broad.mit.edu	37	1	71418660	71418660	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr1:71418660C>T	ENST00000356595.4	-	4	1397	c.1187G>A	c.(1186-1188)aGa>aAa	p.R396K	PTGER3_ENST00000370932.2_Intron|PTGER3_ENST00000460330.1_Intron|PTGER3_ENST00000351052.5_Intron|PTGER3_ENST00000370931.3_Intron|PTGER3_ENST00000414819.1_3'UTR|PTGER3_ENST00000354608.5_Intron	NM_198718.1	NP_942011.1	P43115	PE2R3_HUMAN	prostaglandin E receptor 3 (subtype EP3)	0					cell death|positive regulation of fever generation|transcription, DNA-dependent	integral to plasma membrane|nuclear envelope	ligand-dependent nuclear receptor activity|prostaglandin E receptor activity			endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)	CATTTCTTCTCTGTTCAGCAC	0.413000													4	78					0	0	1	0	0
IGHV3-23	28442	broad.mit.edu	37	14	106725652	106725652	+	RNA	SNP	C	C	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr14:106725652C>T	ENST00000390609.2	-	0	81																											GCCCAAACTCCATGGTGAGTT	0.458000													12	148					0	0	1	0	0
SFRP4	6424	broad.mit.edu	37	7	37951873	37951873	+	Silent	SNP	C	C	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr7:37951873C>T	ENST00000436072.2	-	4	1016	c.639G>A	c.(637-639)gaG>gaA	p.E213E	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	213	NTR.				brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						CCGTTGTGACCTCATTGCAGC	0.423000													5	44					0	0	1	0	0
FAM65B	9750	broad.mit.edu	37	6	24843463	24843463	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr6:24843463G>A	ENST00000259698.4	-	14	1722	c.1547C>T	c.(1546-1548)tCt>tTt	p.S516F	FAM65B_ENST00000378023.4_Missense_Mutation_p.S466F|FAM65B_ENST00000540914.1_Missense_Mutation_p.S466F|FAM65B_ENST00000538035.1_Missense_Mutation_p.S495F|FAM65B_ENST00000510784.2_Missense_Mutation_p.S500F	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B	516					cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						GCAAGCCTCAGATGGGGCCGA	0.577000													7	37					0	0	1	0	0
SPNS3	201305	broad.mit.edu	37	17	4349486	4349486	+	Silent	SNP	C	C	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr17:4349486C>T	ENST00000355530.2	+	4	826	c.546C>T	c.(544-546)ccC>ccT	p.P182P	SPNS3_ENST00000333476.2_Silent_p.P55P|SPNS3_ENST00000576069.1_3'UTR	NM_182538.4	NP_872344.3	Q6ZMD2	SPNS3_HUMAN	spinster homolog 3 (Drosophila)	182					lipid transport|transmembrane transport	integral to membrane				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						TCTTTATCCCCGTTGGAAGGT	0.607000													6	144					0	0	1	0	0
TENM3	55714	broad.mit.edu	37	4	183714413	183714413	+	Silent	SNP	C	C	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr4:183714413C>T	ENST00000511685.1	+	26	6711	c.6588C>T	c.(6586-6588)ttC>ttT	p.F2196F	TENM3_ENST00000406950.2_Silent_p.F2196F					teneurin transmembrane protein 3																		AAGATGGTTTCCTACGTCAAA	0.488000													16	57					0	0	1	0	0
WDFY3	23001	broad.mit.edu	37	4	85660250	85660250	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr4:85660250C>T	ENST00000322366.6	-	40	6894	c.6487G>A	c.(6487-6489)Gaa>Aaa	p.E2163K	WDFY3_ENST00000295888.4_Missense_Mutation_p.E2163K			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2163						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GCTTCTGCTTCCAGTCCAAAT	0.403000													10	45					0	0	1	0	0
COL4A5	1287	broad.mit.edu	37	X	107925060	107925060	+	Silent	SNP	C	C	T	rs104886404		TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chrX:107925060C>T	ENST00000328300.6	+	47	4402	c.4158C>T	c.(4156-4158)atC>atT	p.I1386I	COL4A5_ENST00000361603.2_Silent_p.I1380I	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1380	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						CTCCAGGAATCCCTGGCCAGC	0.453000									Alport syndrome with Diffuse Leiomyomatosis				4	10					0	0	1	0	0
IGSF9	57549	broad.mit.edu	37	1	159899999	159899999	+	Silent	SNP	G	G	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr1:159899999G>A	ENST00000368094.1	-	15	2241	c.2044C>T	c.(2044-2046)Ctg>Ttg	p.L682L	IGSF9_ENST00000493195.1_5'UTR|IGSF9_ENST00000361509.3_Silent_p.L666L	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	682	Fibronectin type-III 2.					cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			CCTGGCACCAGCAGCTCTGTT	0.597000													22	135					0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104048398	104048398	+	Silent	SNP	C	C	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr12:104048398C>T	ENST00000388887.2	+	13	1677	c.1473C>T	c.(1471-1473)atC>atT	p.I491I		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	491	FAS1 1.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AAGGGGACATCATTGCTTCCA	0.368000													5	58					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240519181	240519181	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr1:240519181G>A	ENST00000319653.9	+	14	5061	c.4831G>A	c.(4831-4833)Gaa>Aaa	p.E1611K	FMN2_ENST00000545751.1_Missense_Mutation_p.E207K	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1611	FH2.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GCCTTTCAAGGAAAACATGGA	0.318000													6	28					0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23863404	23863404	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr14:23863404G>A	ENST00000405093.3	-	21	2628	c.2558C>T	c.(2557-2559)aCc>aTc	p.T853I	MYH6_ENST00000356287.3_Missense_Mutation_p.T853I	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	853					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TTCCTTCATGGTGGCCATCTC	0.572000													25	104					0	0	1	0	0
ZNF750	79755	broad.mit.edu	37	17	80789224	80789224	+	Silent	SNP	G	G	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr17:80789224G>A	ENST00000269394.3	-	2	1940	c.1107C>T	c.(1105-1107)gaC>gaT	p.D369D	ZNF750_ENST00000572562.1_5'UTR|TBCD_ENST00000539345.2_Intron|TBCD_ENST00000397466.2_Intron|TBCD_ENST00000355528.4_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	369						intracellular	zinc ion binding			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			TTCTGTTGGGGTCCGAAGGGT	0.557000													18	191					0	0	1	0	0
NLRP9	338321	broad.mit.edu	37	19	56243696	56243696	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr19:56243696C>T	ENST00000332836.2	-	2	1528	c.1501G>A	c.(1501-1503)Gaa>Aaa	p.E501K		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	501						cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		ACGATTTCTTCTGTTGAAATT	0.453000													20	74					0	0	1	0	0
DDX60L	91351	broad.mit.edu	37	4	169362542	169362542	+	Missense_Mutation	SNP	G	G	A	rs34420455		TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr4:169362542G>A	ENST00000511577.1	-	10	1487	c.1240C>T	c.(1240-1242)Cct>Tct	p.P414S	DDX60L_ENST00000505890.1_Missense_Mutation_p.P414S|DDX60L_ENST00000260184.7_Missense_Mutation_p.P414S			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	414							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		GTTCTCAGAGGAAAAGACTTT	0.373000													8	25					0	0	1	0	0
INADL	10207	broad.mit.edu	37	1	62327290	62327290	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr1:62327290C>T	ENST00000371158.2	+	19	2504	c.2390C>T	c.(2389-2391)tCa>tTa	p.S797L	INADL_ENST00000316485.6_Missense_Mutation_p.S797L	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	797					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						ACTGAATTTTCAGGAACAATT	0.254000													9	58					0	0	1	0	0
COL4A5	1287	broad.mit.edu	37	X	107925061	107925061	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chrX:107925061C>T	ENST00000328300.6	+	47	4403	c.4159C>T	c.(4159-4161)Cct>Tct	p.P1387S	COL4A5_ENST00000361603.2_Missense_Mutation_p.P1381S	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1381	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TCCAGGAATCCCTGGCCAGCC	0.448000									Alport syndrome with Diffuse Leiomyomatosis				3	10					0	0	1	0	0
EHBP1L1	254102	broad.mit.edu	37	11	65347927	65347927	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr11:65347927C>T	ENST00000309295.4	+	6	876	c.611C>T	c.(610-612)gCc>gTc	p.A204V		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	204										central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						GCCCCGGAGGCCCGGGCTCGA	0.627000													5	78					0	0	1	0	0
ECE2	9718	broad.mit.edu	37	3	184008435	184008435	+	Silent	SNP	C	C	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr3:184008435C>T	ENST00000402825.3	+	15	2100	c.2100C>T	c.(2098-2100)ttC>ttT	p.F700F	ECE2_ENST00000404464.3_Silent_p.F582F|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000359140.4_Silent_p.F553F|ECE2_ENST00000357474.5_Silent_p.F628F	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	700	Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGGCCCCCTTCTATGCCCGCA	0.622000													20	154					0	0	1	0	0
F7	2155	broad.mit.edu	37	13	113772793	113772793	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr13:113772793C>G	ENST00000375581.3	+	9	907	c.872C>G	c.(871-873)cCc>cGc	p.P291R	F7_ENST00000541084.1_Missense_Mutation_p.P222R|F7_ENST00000346342.3_Missense_Mutation_p.P269R	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	coagulation factor VII (serum prothrombin conversion accelerator)	291	Peptidase S1.				anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity			large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	GTCATCATCCCCAGCACGTAC	0.682000													9	145					0	0	1	0	0
OR2M4	26245	broad.mit.edu	37	1	248402269	248402269	+	Silent	SNP	C	C	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr1:248402269C>T	ENST00000306687.1	+	1	39	c.39C>T	c.(37-39)atC>atT	p.I13I		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	13					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CCATCTTCATCCTGCTGGGAA	0.428000													11	78					0	0	1	0	0
TLK1	9874	broad.mit.edu	37	2	171906377	171906377	+	Silent	SNP	G	G	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr2:171906377G>T	ENST00000442919.2	-	10	1398	c.783C>A	c.(781-783)ggC>ggA	p.G261G	TLK1_ENST00000521943.1_Silent_p.G261G|TLK1_ENST00000360843.3_Silent_p.G330G|TLK1_ENST00000431350.2_Silent_p.G309G|TLK1_ENST00000434911.2_Silent_p.G213G	NM_012290.4	NP_036422.3	Q9UKI8	TLK1_HUMAN	tousled-like kinase 1	309				E -> D (in Ref. 1; BAA20562).	cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						TAAATGAAGCGCCATGTCTAA	0.368000													3	49					1	1	1	1	0
TMEM189	387521	broad.mit.edu	37	20	48700666	48700666	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr20:48700666C>T	ENST00000557021.1	-	7	1126	c.966_splice	c.e7+1	p.V322_splice	UBE2V1_ENST00000371674.3_Splice_Site_p.V99_splice|UBE2V1_ENST00000371677.3_Splice_Site_p.V122_splice|TMEM189-UBE2V1_ENST00000341698.2_Splice_Site_p.V322_splice|UBE2V1_ENST00000396059.3_5'UTR|UBE2V1_ENST00000340309.3_Splice_Site_p.V122_splice|UBE2V1_ENST00000371657.5_Intron|UBE2V1_ENST00000415862.2_Splice_Site_p.V55_splice|UBE2V1_ENST00000420027.2_Splice_Site_p.V55_splice	NM_199203.2	NP_954673.1			transmembrane protein 189											breast(1)|endometrium(2)|large_intestine(3)|lung(2)	8			BRCA - Breast invasive adenocarcinoma(9;3.02e-07)			AACAACTTACCACTCCATTAG	0.388000													7	39					0	0	1	0	0
PTGS2	5743	broad.mit.edu	37	1	186648534	186648534	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr1:186648534C>T	ENST00000367468.5	-	2	225	c.89G>A	c.(88-90)gGt>gAt	p.G30D	PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	30	EGF-like.				cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)	CATACATACACCTCGGTTTTG	0.388000													8	47					0	0	1	0	0
PPRC1	23082	broad.mit.edu	37	10	103909754	103909754	+	Silent	SNP	T	T	C			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr10:103909754T>C	ENST00000278070.2	+	14	5002	c.4963T>C	c.(4963-4965)Ttg>Ctg	p.L1655L	PPRC1_ENST00000370012.1_Silent_p.L622L|PPRC1_ENST00000413464.2_Silent_p.L1391L	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1655					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		TGACACATTGTTGAAACAGGC	0.488000													20	79					0	0	1	0	0
SH2B1	25970	broad.mit.edu	37	16	28877902	28877902	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr16:28877902C>T	ENST00000337120.5	+	1	3778	c.487C>T	c.(487-489)Cga>Tga	p.R163*	SH2B1_ENST00000359285.5_Nonsense_Mutation_p.R163*|SH2B1_ENST00000545570.1_Intron|SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000538342.1_Intron|SH2B1_ENST00000322610.8_Nonsense_Mutation_p.R163*|SH2B1_ENST00000395532.4_Nonsense_Mutation_p.R163*	NM_001145812.1|NM_015503.2	NP_001139284.1|NP_056318.2	Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	163	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).|Interaction with RAC1 (By similarity).|Required for NGF signaling (By similarity).				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						TCGCTCTGTCCGAGGCTCAGT	0.657000													16	96					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453134	140453134	+	Missense_Mutation	SNP	T	T	C	rs121913377		TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr7:140453134T>C	ENST00000288602.6	-	15	1861	c.1801A>G	c.(1801-1803)Aaa>Gaa	p.K601E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	601	Protein kinase.		K -> E (in colorectal cancer).|K -> Q (in CFC syndrome).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.K601E(40)|p.V600_K601>E(12)|p.T599_R603>I(2)|p.K601del(1)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	CATCGAGATTTCACTGTAGCT	0.368000		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				8	40					0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33881430	33881430	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr5:33881430T>C	ENST00000504830.1	-	2	618	c.283A>G	c.(283-285)Att>Gtt	p.I95V	ADAMTS12_ENST00000515401.1_Missense_Mutation_p.I95V|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.I95V	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	95					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TCGTGAGAAATTCTGTAGTAC	0.458000										HNSCC(64;0.19)			30	108					0	0	1	0	0
PLA2G4E	123745	broad.mit.edu	37	15	42281705	42281705	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr15:42281705C>T	ENST00000399518.3	-	15	2117	c.1631G>A	c.(1630-1632)gGg>gAg	p.G544E	PLA2G4E_ENST00000413860.2_Missense_Mutation_p.G515E|CTD-2382E5.1_ENST00000499478.2_RNA	NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE	532	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		GATGAAGGCCCCATACTTCTG	0.612000											OREG0023079	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	42					0	0	1	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70585410	70585410	+	Silent	SNP	G	G	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr8:70585410G>A	ENST00000260126.3	-	10	2947	c.2241C>T	c.(2239-2241)ttC>ttT	p.F747F	SLCO5A1_ENST00000530307.1_Silent_p.F692F|SLCO5A1_ENST00000524945.1_3'UTR	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	747						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			TAAACCCAACGAATTTGAGGC	0.488000													10	78					0	0	1	0	0
GALNT15	117248	broad.mit.edu	37	3	16217066	16217066	+	Silent	SNP	G	G	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr3:16217066G>A	ENST00000339732.5	+	1	911	c.408G>A	c.(406-408)ggG>ggA	p.G136G	GALNT15_ENST00000470031.1_3'UTR|GALNT15_ENST00000437509.1_Silent_p.G136G	NM_054110.4	NP_473451.3			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15																		GGGACTGGGGGGCTGATGAGG	0.637000													9	29					0	0	1	0	0
SIN3A	25942	broad.mit.edu	37	15	75693124	75693124	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr15:75693124G>T	ENST00000394947.3	-	11	1998	c.1684C>A	c.(1684-1686)Cca>Aca	p.P562T	SIN3A_ENST00000394949.4_Missense_Mutation_p.P562T|SIN3A_ENST00000360439.4_Missense_Mutation_p.P562T	NM_001145358.1	NP_001138830.1	Q96ST3	SIN3A_HUMAN	SIN3 transcription regulator family member A	562	Interaction with NCOR1 (By similarity).|Interactions with SUDS3 and SAP130.			P -> G (in Ref. 4; AAK95854).	blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						TAACTCTTTGGTAAGGCTCGA	0.493000													3	30					0.004672	0.0047243	1	1	0
CSMD2	114784	broad.mit.edu	37	1	34174715	34174715	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr1:34174715C>T	ENST00000373381.4	-	22	3726	c.3550G>A	c.(3550-3552)Gaa>Aaa	p.E1184K	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373380.1_Missense_Mutation_p.E57K	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1144	CUB 7.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TCGGAGAGTTCGAATGCCCTG	0.438000													15	104					0	0	1	0	0
OSBPL5	114879	broad.mit.edu	37	11	3115487	3115487	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr11:3115487G>A	ENST00000263650.7	-	15	1858	c.1699C>T	c.(1699-1701)Cag>Tag	p.Q567*	OSBPL5_ENST00000525498.1_Nonsense_Mutation_p.Q478*|OSBPL5_ENST00000348039.5_Nonsense_Mutation_p.Q499*|OSBPL5_ENST00000478260.1_Nonsense_Mutation_p.Q21*|OSBPL5_ENST00000389989.3_Nonsense_Mutation_p.Q499*|OSBPL5_ENST00000542243.1_Nonsense_Mutation_p.Q198*	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN	oxysterol binding protein-like 5	567					cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport	cytosol	oxysterol binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		AATTCCAGCTGGGCCTGGAAG	0.597000													8	43					0	0	1	0	0
KAT6B	23522	broad.mit.edu	37	10	76739017	76739017	+	Silent	SNP	C	C	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr10:76739017C>T	ENST00000287239.4	+	10	2640	c.2151C>T	c.(2149-2151)ggC>ggT	p.G717G	KAT6B_ENST00000490365.1_3'UTR|KAT6B_ENST00000372724.1_Silent_p.G425G|KAT6B_ENST00000372714.1_Silent_p.G425G|KAT6B_ENST00000372711.1_Silent_p.G534G|KAT6B_ENST00000372725.1_Silent_p.G425G	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN	K(lysine) acetyltransferase 6B	717	Negatively regulates HAT activity.				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding										AAGACTGTGGCCGGTACCCTT	0.383000													7	36					0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197391051	197391051	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr1:197391051G>A	ENST00000367397.1	+	2	1094	c.236G>A	c.(235-237)tGc>tAc	p.C79Y	CRB1_ENST00000535699.1_Missense_Mutation_p.C629Y|CRB1_ENST00000367400.3_Missense_Mutation_p.C698Y|CRB1_ENST00000538660.1_Missense_Mutation_p.C698Y|CRB1_ENST00000367399.2_Missense_Mutation_p.C586Y|CRB1_ENST00000543483.1_3'UTR|CRB1_ENST00000544212.1_Missense_Mutation_p.C179Y			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	698	EGF-like 2.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CAGTGTGACTGCCACAGGCCC	0.517000													4	47					0	0	1	0	0
CHMP7	91782	broad.mit.edu	37	8	23112815	23112815	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr8:23112815C>T	ENST00000397677.1	+	4	1175	c.527C>T	c.(526-528)cCc>cTc	p.P176L	CHMP7_ENST00000313219.7_Missense_Mutation_p.P176L	NM_152272.3	NP_689485.1	Q8WUX9	CHMP7_HUMAN	charged multivesicular body protein 7	176					cellular membrane organization|late endosome to vacuole transport	cytosol|ESCRT III complex	protein transporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11		Prostate(55;0.0513)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		TCCTCCCACCCCGTGGTGGCC	0.582000													10	74					0	0	1	0	0
HECTD1	25831	broad.mit.edu	37	14	31642763	31642763	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr14:31642763T>A	ENST00000399332.1	-	5	1341	c.853A>T	c.(853-855)Aca>Tca	p.T285S	HECTD1_ENST00000553700.1_Missense_Mutation_p.T285S	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	285					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		CTGCAAAGTGTTGAGAGCAGA	0.393000													20	79					0	0	1	0	0
ACER2	340485	broad.mit.edu	37	9	19450564	19450564	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr9:19450564G>A	ENST00000340967.2	+	6	784	c.758G>A	c.(757-759)tGg>tAg	p.W253*		NM_001010887.2	NP_001010887.2	Q5QJU3	ACER2_HUMAN	alkaline ceramidase 2	253					ceramide metabolic process|negative regulation of cell adhesion mediated by integrin|negative regulation of cell-matrix adhesion|negative regulation of protein glycosylation in Golgi|positive regulation of cell proliferation|response to retinoic acid|sphingosine biosynthetic process	integral to Golgi membrane	ceramidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	13						AATGAGAAATGGGCCTTCATT	0.512000													10	76					0	0	1	0	0
CCDC138	165055	broad.mit.edu	37	2	109463245	109463245	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr2:109463245G>A	ENST00000295124.4	+	12	1435	c.1375G>A	c.(1375-1377)Gga>Aga	p.G459R	CCDC138_ENST00000412964.2_Missense_Mutation_p.G459R	NM_144978.1	NP_659415.1	Q96M89	CC138_HUMAN	coiled-coil domain containing 138	459										endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	14						CATTTTTAAAGGAGTGGTAAC	0.348000													6	43					0	0	1	0	0
UBXN7	26043	broad.mit.edu	37	3	196098779	196098779	+	Silent	SNP	G	G	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr3:196098779G>A	ENST00000296328.4	-	6	677	c.603C>T	c.(601-603)ttC>ttT	p.F201F	UBXN7_ENST00000535858.1_Silent_p.F53F|UBXN7_ENST00000428095.1_Silent_p.F39F	NM_015562.1	NP_056377.1	O94888	UBXN7_HUMAN	UBX domain protein 7	201							protein binding			NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						GCCAGAAAATGAAATGTTCCC	0.383000													16	118					0	0	1	0	0
UBA7	7318	broad.mit.edu	37	3	49850559	49850559	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr3:49850559C>T	ENST00000333486.3	-	4	561	c.403G>A	c.(403-405)Gtg>Atg	p.V135M	UBA7_ENST00000494212.1_5'UTR	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	135	2 approximate repeats.				ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		AAGGTGCCCACCTTCAGCTGC	0.582000													16	54					0	0	1	0	0
TRIO	7204	broad.mit.edu	37	5	14488280	14488280	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr5:14488280C>T	ENST00000344204.4	+	48	7567	c.7543C>T	c.(7543-7545)Cgc>Tgc	p.R2515C	TRIO_ENST00000537187.1_Intron	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2515					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GCAGACACCCCGCCACGCGGC	0.711000													7	31					0	0	1	0	0
AKNA	80709	broad.mit.edu	37	9	117138988	117138988	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr9:117138988G>C	ENST00000307564.4	-	3	1260	c.1099C>G	c.(1099-1101)Cgg>Ggg	p.R367G	AKNA_ENST00000223791.3_5'UTR|AKNA_ENST00000374075.5_Missense_Mutation_p.R286G|AKNA_ENST00000374088.3_Missense_Mutation_p.R367G|AKNA_ENST00000312033.3_Missense_Mutation_p.R367G	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	367					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.R367W(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						AATCTCACCCGGGGCCCTACC	0.607000													4	36					0	0	1	0	0
CDH18	1016	broad.mit.edu	37	5	19483608	19483608	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr5:19483608C>T	ENST00000507958.1	-	14	2674	c.1684G>A	c.(1684-1686)Gat>Aat	p.D562N	CDH18_ENST00000506372.1_Intron|CDH18_ENST00000382275.1_Missense_Mutation_p.D562N|CDH18_ENST00000274170.4_Missense_Mutation_p.D562N|CDH18_ENST00000502796.1_Intron			Q13634	CAD18_HUMAN	cadherin 18, type 2	562	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D562Y(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TAATACACATCCTGAACAGTT	0.468000													7	60					0	0	1	0	0
OR2B3	442184	broad.mit.edu	37	6	29054720	29054720	+	Silent	SNP	G	G	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr6:29054720G>A	ENST00000377173.2	-	1	370	c.306C>T	c.(304-306)atC>atT	p.I102I		NM_001005226.2	NP_001005226.1			olfactory receptor, family 2, subfamily B, member 3											breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						CCAGGAAGATGATGAGGTGGG	0.468000													15	91					0	0	1	0	0
MST1	4485	broad.mit.edu	37	3	49722209	49722209	+	Silent	SNP	C	C	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr3:49722209C>T	ENST00000449682.2	-	15	2092	c.1731G>A	c.(1729-1731)ggG>ggA	p.G577G	AC099668.5_ENST00000563780.1_RNA	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth factor-like)	563	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		AGCCTGAGGGCCCACACACCA	0.612000													10	70					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228886617	228886617	+	Silent	SNP	G	G	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr2:228886617G>A	ENST00000392056.3	-	6	553	c.507C>T	c.(505-507)aaC>aaT	p.N169N	SPHKAP_ENST00000344657.5_Silent_p.N169N	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	169						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		AGATGATGCAGTTGGTACTGT	0.443000													7	31					0	0	1	0	0
OTOA	146183	broad.mit.edu	37	16	21730787	21730787	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr16:21730787G>A	ENST00000388958.3	+	16	1769	c.1768G>A	c.(1768-1770)Gat>Aat	p.D590N	OTOA_ENST00000388956.4_Missense_Mutation_p.D511N|OTOA_ENST00000388957.3_Missense_Mutation_p.D266N|OTOA_ENST00000286149.4_Missense_Mutation_p.D604N	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN	otoancorin	604					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		CCATTTCCAGGATTTTCAGAA	0.498000													6	81					0	0	1	0	0
PCDHB3	56132	broad.mit.edu	37	5	140480755	140480755	+	Silent	SNP	G	G	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr5:140480755G>A	ENST00000231130.2	+	1	522	c.522G>A	c.(520-522)ccG>ccA	p.P174P	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		174	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTATCACTCCGAATTCCCACT	0.507000													10	104					0	0	1	0	0
ELP2	55250	broad.mit.edu	37	18	33744557	33744557	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr18:33744557G>C	ENST00000358232.6	+	18	1944	c.1881G>C	c.(1879-1881)aaG>aaC	p.K627N	ELP2_ENST00000423854.2_Missense_Mutation_p.K557N|ELP2_ENST00000442325.2_Missense_Mutation_p.K692N|ELP2_ENST00000542824.1_Missense_Mutation_p.K557N|ELP2_ENST00000350494.6_Missense_Mutation_p.K622N|ELP2_ENST00000542050.1_3'UTR|ELP2_ENST00000351393.6_Missense_Mutation_p.K601N	NM_018255.2	NP_060725.1	Q6IA86	ELP2_HUMAN	elongator acetyltransferase complex subunit 2	627					regulation of transcription from RNA polymerase II promoter	Golgi apparatus|transcription elongation factor complex				NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						CTAATGAGAAGTTCTTACTAG	0.423000													5	54					0	0	1	0	0
MOSPD3	64598	broad.mit.edu	37	7	100212779	100212779	+	Silent	SNP	C	C	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr7:100212779C>T	ENST00000393950.2	+	5	963	c.681C>T	c.(679-681)ctC>ctT	p.L227L	MOSPD3_ENST00000424091.2_Silent_p.L217L|MOSPD3_ENST00000379527.2_Silent_p.L227L|MOSPD3_ENST00000223054.4_Silent_p.L227L	NM_023948.4	NP_076438.1	O75425	MSPD3_HUMAN	motile sperm domain containing 3	227						integral to membrane	structural molecule activity			breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CTCCAGGCCTCCTCACCATGG	0.632000													15	106					0	0	1	0	0
OR2T11	127077	broad.mit.edu	37	1	248790279	248790279	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr1:248790279G>A	ENST00000330803.2	-	1	212	c.151C>T	c.(151-153)Cgc>Tgc	p.R51C		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	51					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GTGTGGAGGCGAGAGTCCACC	0.498000													23	87					0	0	1	0	0
AHCTF1	25909	broad.mit.edu	37	1	247040329	247040329	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr1:247040329G>A	ENST00000366508.1	-	23	3101	c.2965C>T	c.(2965-2967)Ctt>Ttt	p.L989F	AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000391829.2_Missense_Mutation_p.L954F|AHCTF1_ENST00000326225.3_Missense_Mutation_p.L963F			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	954					cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TGCACTAAAAGGAATTCATGA	0.348000													4	38					0	0	1	0	0
FRMD7	90167	broad.mit.edu	37	X	131231325	131231325	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chrX:131231325C>G	ENST00000298542.4	-	4	428	c.253G>C	c.(253-255)Gac>Cac	p.D85H	FRMD7_ENST00000464296.1_Missense_Mutation_p.D70H	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	85	FERM.				regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					TGTCCAGGGTCCACTGGGAAA	0.358000													39	98					0	0	1	0	0
TRIO	7204	broad.mit.edu	37	5	14488216	14488216	+	Silent	SNP	C	C	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr5:14488216C>T	ENST00000344204.4	+	48	7503	c.7479C>T	c.(7477-7479)ccC>ccT	p.P2493P	TRIO_ENST00000537187.1_Intron	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2493					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					CCGCCTCCCCCGCCAGCCGAC	0.716000													6	33					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13754425	13754425	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr5:13754425C>T	ENST00000265104.4	-	62	10546	c.10442G>A	c.(10441-10443)cGa>cAa	p.R3481Q		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3481	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GTGTCTGCATCGCTCTGCATC	0.418000									Kartagener syndrome				10	65					0	0	1	0	0
OR4K15	81127	broad.mit.edu	37	14	20443887	20443887	+	Silent	SNP	C	C	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr14:20443887C>T	ENST00000305051.5	+	1	285	c.210C>T	c.(208-210)atC>atT	p.I70I		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTCTCATCATCCTCACTGTGA	0.443000													5	34					0	0	1	0	0
ASIC3	9311	broad.mit.edu	37	7	150746324	150746324	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr7:150746324G>A	ENST00000357922.4	+	1	946	c.352G>A	c.(352-354)Gat>Aat	p.D118N	ASIC3_ENST00000349064.5_Missense_Mutation_p.D118N|ASIC3_ENST00000297512.8_Missense_Mutation_p.D118N	NM_020322.3	NP_064718.1	Q9UHC3	ACCN3_HUMAN	acid-sensing (proton-gated) ion channel 3	118					sensory perception|signal transduction	cytoplasm|integral to plasma membrane	ligand-gated sodium channel activity										GCTGGGCCTGGATCCCGCAGA	0.687000													19	76					0	0	1	0	0
NOS2	4843	broad.mit.edu	37	17	26115904	26115904	+	Silent	SNP	C	C	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr17:26115904C>T	ENST00000313735.6	-	4	482	c.249G>A	c.(247-249)cgG>cgA	p.R83R		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	83					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	TCCTCACATGCCGTGGGGAGG	0.527000													16	232					0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31593226	31593226	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr2:31593226C>T	ENST00000379416.3	-	18	2023	c.1975G>A	c.(1975-1977)Gat>Aat	p.D659N		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	659					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	CTTACCTTATCCTTCGCAAAG	0.348000													6	37					0	0	1	0	0
TMEM2	23670	broad.mit.edu	37	9	74309493	74309493	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr9:74309493A>C	ENST00000377044.4	-	21	4167	c.3628T>G	c.(3628-3630)Tac>Gac	p.Y1210D	TMEM2_ENST00000396272.3_Missense_Mutation_p.Y203D|TMEM2_ENST00000377066.5_Missense_Mutation_p.Y1147D	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	1210						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		ACAGGGAGGTAACTTTTATGA	0.423000													12	43					0	0	1	0	0
FBLN7	129804	broad.mit.edu	37	2	112940491	112940491	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr2:112940491G>A	ENST00000331203.2	+	6	1065	c.794G>A	c.(793-795)gGg>gAg	p.G265E	FBLN7_ENST00000409667.3_Intron|FBLN7_ENST00000409903.1_Missense_Mutation_p.G265E|FBLN7_ENST00000409450.3_Missense_Mutation_p.G219E	NM_001128165.1|NM_153214.2	NP_001121637.1|NP_694946.2	Q53RD9	FBLN7_HUMAN	fibulin 7	265	EGF-like 2; calcium-binding (Potential).				cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						CTGGCTGACGGGAAGAGCTGT	0.662000													4	134					0	0	1	0	0
TRIM50	135892	broad.mit.edu	37	7	72730583	72730583	+	Silent	SNP	G	G	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr7:72730583G>A	ENST00000333149.2	-	6	1055	c.855C>T	c.(853-855)ctC>ctT	p.L285L	TRIM50_ENST00000453152.1_Silent_p.L285L	NM_178125.2	NP_835226.1	Q86XT4	TRI50_HUMAN	tripartite motif containing 50	285	B30.2/SPRY.					cytoplasm|intracellular membrane-bounded organelle	ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)	20						CTTTCCGGAAGAGCCTTTTCC	0.592000													12	60					0	0	1	0	0
MBD5	55777	broad.mit.edu	37	2	149226818	149226818	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr2:149226818C>T	ENST00000407073.1	+	9	2303	c.1306C>T	c.(1306-1308)Cct>Tct	p.P436S	MBD5_ENST00000404807.1_Missense_Mutation_p.P436S	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	436						chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		CTCCCTGTCCCCTTCTCCAGT	0.488000													3	21					0	0	1	0	0
DDHD1	80821	broad.mit.edu	37	14	53513522	53513522	+	Silent	SNP	G	G	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr14:53513522G>A	ENST00000357758.3	-	12	2766	c.2583C>T	c.(2581-2583)caC>caT	p.H861H	DDHD1_ENST00000395606.1_Silent_p.H868H|DDHD1_ENST00000323669.5_Silent_p.H889H	NM_030637.2	NP_085140.2	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	889	DDHD.				lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					CATCATCATCGTGCTCATGTT	0.398000													7	66					0	0	1	0	0
PLA2G3	50487	broad.mit.edu	37	22	31536101	31536101	+	Silent	SNP	G	G	A	rs148262601		TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr22:31536101G>A	ENST00000215885.3	-	1	492	c.240C>T	c.(238-240)acC>acT	p.T80T		NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III	80					cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						CGTAGGCTGCGGTGAGCTCCG	0.632000													12	80					0	0	1	0	0
RAB11FIP3	9727	broad.mit.edu	37	16	555569	555569	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr16:555569G>A	ENST00000262305.4	+	8	1829	c.1441G>A	c.(1441-1443)Gca>Aca	p.A481T	RAB11FIP3_ENST00000450428.1_Missense_Mutation_p.A185T|RAB11FIP3_ENST00000457159.1_Missense_Mutation_p.A526T	NM_014700.3	NP_055515.1	O75154	RFIP3_HUMAN	RAB11 family interacting protein 3 (class II)	481					cell cycle|cytokinesis|endocytic recycling|protein transport	centrosome|cleavage furrow|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding			breast(1)|endometrium(2)|kidney(3)|lung(5)|upper_aerodigestive_tract(1)	12		Hepatocellular(16;0.0218)				AAAGGACACGGCAGCCACCGG	0.642000													8	18					0	0	1	0	0
CCL11	6356	broad.mit.edu	37	17	32614164	32614164	+	Silent	SNP	C	C	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr17:32614164C>T	ENST00000305869.3	+	2	267	c.126C>T	c.(124-126)ccC>ccT	p.P42P		NM_002986.2	NP_002977.1	P51671	CCL11_HUMAN	chemokine (C-C motif) ligand 11	42					cell adhesion|cellular calcium ion homeostasis|immune response|positive regulation of actin filament polymerization|positive regulation of cell migration|positive regulation of endothelial cell proliferation|positive regulation of Rac GTPase activity|protein phosphorylation|response to radiation|response to virus|signal transduction	extracellular space	chemokine activity			breast(1)|lung(1)|prostate(1)	3	Breast(3;0.00224)	Breast(31;0.151)|Ovarian(249;0.17)		BRCA - Breast invasive adenocarcinoma(366;0.155)		GGAAGATACCCCTTCAGCGAC	0.433000													4	58					0	0	1	0	0
GIMAP8	155038	broad.mit.edu	37	7	150174541	150174541	+	Silent	SNP	G	G	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr7:150174541G>A	ENST00000307271.3	+	5	2245	c.1671G>A	c.(1669-1671)acG>acA	p.T557T		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	557						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		CAGACTTTACGAAATACGCGA	0.493000													26	92					0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50278624	50278624	+	Silent	SNP	C	C	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr18:50278624C>T	ENST00000442544.2	+	2	908	c.292C>T	c.(292-294)Ctg>Ttg	p.L98L	DCC_ENST00000412726.1_5'UTR	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	98	Ig-like C2-type 1.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TGGGTCTCTGCTGATACAAAA	0.458000													7	62					0	0	1	0	0
PRKCB	5579	broad.mit.edu	37	16	24135199	24135199	+	Missense_Mutation	SNP	C	C	T	rs139055681	byFrequency	TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr16:24135199C>T	ENST00000303531.7	+	9	1114	c.962C>T	c.(961-963)aCg>aTg	p.T321M	PRKCB_ENST00000321728.7_Missense_Mutation_p.T321M	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	321					apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	GAAGAAAAGACGACCAACACT	0.483000													13	61					0	0	1	0	0
ATPAF1	64756	broad.mit.edu	37	1	47134006	47134008	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr1:47134006_47134008delCCT	ENST00000576409.1	-	1	118_120	c.56_58delAGG	c.(55-60)gcg>g	p.EA19del	ATPAF1_ENST00000371937.4_5'UTR|ATPAF1_ENST00000525633.1_Intron|ATPAF1_ENST00000574428.1_5'UTR|EFCAB14_ENST00000544071.1_Intron|ATPAF1_ENST00000329231.4_In_Frame_Del_p.EA19del			Q5TC12	ATPF1_HUMAN	ATP synthase mitochondrial F1 complex assembly factor 1	0					protein complex assembly	mitochondrion	protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	8	Acute lymphoblastic leukemia(166;0.155)					GCCGCCCCCGCCTCCTCCTCCTC	0.803													2	4	---	---	---	---					
GAL3ST2	64090	broad.mit.edu	37	2	242738494	242738496	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr2:242738494_242738496delTCC	ENST00000192314.6	+	2	175_177	c.44_46delTCC	c.(43-48)atc>a	p.IL15del		NM_022134.2	NP_071417.2	Q9H3Q3	G3ST2_HUMAN	galactose-3-O-sulfotransferase 2	15					biosynthetic process	Golgi cisterna membrane|integral to membrane	galactosylceramide sulfotransferase activity	p.L16I(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1)	14		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		TTCCGGGTCATCCTCCTCCTCCT	0.631													8	295	---	---	---	---					
AC004870.3	0	broad.mit.edu	37	7	47103506	47103508	+	RNA	DEL	TCT	TCT	-			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr7:47103506_47103508delTCT	ENST00000412996.1	-	0	52																											ctcctcctcctcttcctctactc	0.576													2	4	---	---	---	---					
LINC00854	100874261	broad.mit.edu	37	17	41381913	41381914	+	RNA	INS	-	-	T	rs11403368		TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr17:41381913_41381914insT	ENST00000433702.2	-	0	14					NR_047479.1																						accctgatctatcatcgggagg	0.550													3	3	---	---	---	---					
DDX5	1655	broad.mit.edu	37	17	62496834	62496835	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr17:62496834_62496835insA	ENST00000225792.5	-	12	1674_1675	c.1273_1274insT	c.(1273-1275)tatfs	p.Y425fs	DDX5_ENST00000580026.1_5'UTR|DDX5_ENST00000450599.2_Frame_Shift_Ins_p.Y346fs|DDX5_ENST00000578804.1_Frame_Shift_Ins_p.Y425fs	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 5	425	Helicase C-terminal.				cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			TCGATGAATATAATCCTCTGAG	0.396			T	ETV4	prostate								17	127	---	---	---	---					
LOC63930	63930	broad.mit.edu	37	20	61680604	61680605	+	RNA	INS	-	-	T	rs79562152	by1000genomes	TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr20:61680604_61680605insT	ENST00000607802.1	+	0	91				RP11-305P22.5_ENST00000455711.1_lincRNA	NR_033370.1																						tcctcttcctctcctcctcctc	0.609													2	4	---	---	---	---					
